MCID: MRF001
MIFTS: 72

Marfan Syndrome malady

Genetic diseases, Rare diseases, Eye diseases, Cardiovascular diseases, Bone diseases, Fetal diseases categories

Aliases & Classifications for Marfan Syndrome

About this section
Sources:
49OMIM, 10Disease Ontology, 11diseasecard, 68Wikipedia, 21GeneReviews, 45NIH Rare Diseases, 22GeneTests, 23Genetics Home Reference, 47Novoseek, 12DISEASES, 51Orphanet, 24GTR, 35MedlinePlus, 65UMLS, 36MeSH, 67UniProtKB/Swiss-Prot, 59SNOMED-CT, 42NCIt, 29ICD9CM, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 27ICD10, 34MedGen
See all sources

Aliases & Descriptions for Marfan Syndrome:

Name: Marfan Syndrome 49 10 11 68 21 45 23 47 12 51 35 65 36 67
Marfan's Syndrome 10 22 23 24
Mfs 68 23 51 67
Arachnodactyly 68 47 65
Marfan Syndrome Type 1 45 67
 
Marfanoid Hypermobility Syndrome 65
Contractural Arachnodactyly 45
Marfan Syndrome Type 2 65
Mfs1 67


Classifications:



Characteristics (Orphanet epidemiological data):

51
marfan syndrome:
Inheritance: Autosomal dominant; Prevalence: 1-5/10000 (Europe); Age of onset: All ages; Age of death: any age


External Ids:

OMIM49 154700
Disease Ontology10 DOID:14323
MeSH36 D008382
NCIt42 C34807
ICD9CM29 759.82
Orphanet51 558
ICD10 via Orphanet28 Q87.4
MESH via Orphanet37 D008382
UMLS via Orphanet66 C0024796
ICD1027 Q87.4
MedGen34 C0024796

Summaries for Marfan Syndrome

About this section
MedlinePlus:35 Marfan syndrome is a disorder that affects connective tissue. connective tissues are proteins that support skin, bones, blood vessels, and other organs. one of these proteins is fibrillin. a problem with the fibrillin gene causes marfan syndrome. marfan syndrome can be mild to severe, and the symptoms can vary. people with marfan syndrome are often very tall, thin, and loose jointed. most people with marfan syndrome have heart and blood vessel problems, such as a weakness in the aorta or heart valves that leak. they may also have problems with their bones, eyes, skin, nervous system, and lungs. there is no single test to diagnose marfan syndrome. your doctor may use your medical history, family history, and a physical exam to diagnose it. marfan syndrome has no cure, but treatments can help delay or prevent complications. treatments include medicines, surgery, and other therapies. nih: national institute of arthritis and musculoskeletal and skin diseases

MalaCards based summary: Marfan Syndrome, also known as marfan's syndrome, is related to loeys-dietz syndrome type 2a and aortic disease, and has symptoms including striae distensae, arachnodactyly and muscular hypotonia. An important gene associated with Marfan Syndrome is FBN1 (Fibrillin 1), and among its related pathways are NTHi-Induced Signaling and ALK1 signaling events. Affiliated tissues include heart, bone and eye, and related mouse phenotypes are craniofacial and tumorigenesis.

Genetics Home Reference:23 Marfan syndrome is a disorder that affects the connective tissue in many parts of the body. Connective tissue provides strength and flexibility to structures such as bones, ligaments, muscles, blood vessels, and heart valves. The signs and symptoms of Marfan syndrome vary widely in severity, timing of onset, and rate of progression.

NIH Rare Diseases:45 Marfan syndrome is a disorder of the connective tissue. connective tissue provides strength and flexibility to structures throughout the body such as bones, ligaments, muscles, walls of blood vessels, and heart valves. marfan syndrome affects most organs and tissues, especially the skeleton, lungs, eyes, heart, and the large blood vessel that distributes blood from the heart to the rest of the body (the aorta). last updated: 2/25/2011

OMIM:49 A heritable disorder of fibrous connective tissue, Marfan syndrome shows striking pleiotropism and clinical... (154700) more...

UniProtKB/Swiss-Prot:67 Marfan syndrome: A hereditary disorder of connective tissue that affects the skeletal, ocular, and cardiovascular systems. A wide variety of skeletal abnormalities occurs with Marfan syndrome, including scoliosis, chest wall deformity, tall stature, abnormal joint mobility. Ectopia lentis occurs in most of the patients and is almost always bilateral. The leading cause of premature death is progressive dilation of the aortic root and ascending aorta, causing aortic incompetence and dissection. Neonatal Marfan syndrome is the most severe form resulting in death from cardiorespiratory failure in the first few years of life.

Wikipedia:68 Marfan syndrome (also called Marfan\'s syndrome) is a genetic disorder of connective tissue. It has a... more...

GeneReviews summary for marfan

Related Diseases for Marfan Syndrome

About this section

Diseases related to Marfan Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 566)
idRelated DiseaseScoreTop Affiliating Genes
1loeys-dietz syndrome type 2a30.4TGFBR1, TGFBR2
2aortic disease30.4ACTA2, ELN, FBN1, MMP2, TGFBR1, TGFBR2
3shprintzen-goldberg syndrome30.3FBN1, TGFB1
4antley-bixler syndrome29.9ACTA2, FBN1, TGFBR1, TGFBR2
5keratoconus29.8CD36, TGFB1
6ectopia lentis, familial27.3ACTA2, CBS, CD36, COL1A2, DCN, EGF
7aneurysm10.9
8neonatal marfan syndrome10.8
9aortic aneurysm10.8
10myelofibrosis10.7
11aplastic anemia10.6
12bone marrow cancer10.6
13chronic myeloproliferative disease10.6
14polycythemia10.6
15essential thrombocythemia10.6
16contractural arachnodactyly, congenital10.6
17primary polycythemia10.6
18mass syndrome10.6
19connective tissue disease10.6
20blood platelet disease10.6
21thoracic aortic aneurysm10.6
22polycythemia vera, somatic10.6
23thrombocytosis10.6
24hemorrhagic thrombocythemia10.6
25secondary syphilis10.5
26bone development disease10.5
27congenital heart disease10.5
28thrombocythemia 210.5
29adult syndrome10.5
30thrombocytopenia10.5
31blood coagulation disease10.5
32vascular hemostatic disease10.5
33factor v leiden thrombophilia10.5
34thrombocytopenia 210.5
35child syndrome10.5
36kid syndrome10.5
37bone cancer10.5
38thrombocythemia 110.5
39mycosis fungoides10.5
40splenic disease10.5
41loeys-dietz syndrome10.4
42van den ende-gupta syndrome10.4
43coronary heart disease 310.4
44thrombocytopenia 510.4
45hematologic cancer10.4
46meningocele10.4
47congenital nervous system abnormality10.4
48scoliosis10.4
49congenital heart defects, multiple types, 310.4
50periodontitis10.4

Graphical network of the top 20 diseases related to Marfan Syndrome:



Diseases related to marfan syndrome

Symptoms for Marfan Syndrome

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Symptoms by clinical synopsis from OMIM:

154700

Clinical features from OMIM:

154700

Symptoms:

 51 (show all 48)
  • long limbs/dolichostenomelia
  • long hand/arachnodactyly
  • flat foot
  • striae
  • aortic root dilatation/dilation/aneurysm
  • hypotonia
  • muscle hypotrophy/atrophy/dystrophy/agenesis/amyotrophy
  • autosomal dominant inheritance
  • tall stature/gigantism/growth acceleration
  • marfanoid morphotype
  • asthenia/fatigue/weakness
  • narrow face
  • flat cheek bones/malar hypoplasia
  • dental malocclusion
  • visual loss/blindness/amblyopia
  • myopia
  • high vaulted/narrow palate
  • pectus excavatum
  • scoliosis
  • coxa profunda/acetabular protrusion
  • arterial aneurism (excluding aorta)
  • dural ectasia/
  • sleep and vigilance disorders
  • articular/joint pain/arthralgia
  • hyperextensible joints/articular hyperlaxity
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • dolichocephaly/scaphocephaly
  • micrognathia/retrognathia/micrognathism/retrognathism
  • glaucoma
  • flat cornea
  • lens dislocation/luxation/subluxation/ectopia lentis
  • retinal detachment
  • cleft palate without cleft lip/submucosal cleft palate/bifid uvula
  • abnormal dentition/dental position/implantation/unerupted/dental ankylosis
  • kyphosis
  • inguinal/inguinoscrotal/crural hernia
  • thoracic/chest pain
  • aortic valve anomaly/incompetence/insufficiency/regurgitation/bicuspid
  • endocardium anomalies/fibroelastosis/endocarditis
  • aortic dissection
  • heart/cardiac failure
  • arterial rupture
  • meningocele
  • hyperactivity/attention deficit
  • myalgia/muscular pain
  • osteoporosis/osteopenia/demineralisation/osteomalacia/rickets
  • restricted joint mobility/joint stiffness/ankylosis
  • sprain/twisted joint

HPO human phenotypes related to Marfan Syndrome:

(show all 95)
id Description Frequency HPO Source Accession
1 striae distensae hallmark (90%) HP:0001065
2 arachnodactyly hallmark (90%) HP:0001166
3 muscular hypotonia hallmark (90%) HP:0001252
4 disproportionate tall stature hallmark (90%) HP:0001519
5 pes planus hallmark (90%) HP:0001763
6 skeletal muscle atrophy hallmark (90%) HP:0003202
7 dilatation of the ascending aorta hallmark (90%) HP:0005111
8 narrow face typical (50%) HP:0000275
9 visual impairment typical (50%) HP:0000505
10 myopia typical (50%) HP:0000545
11 dental malocclusion typical (50%) HP:0000689
12 pectus excavatum typical (50%) HP:0000767
13 joint hypermobility typical (50%) HP:0001382
14 sleep disturbance typical (50%) HP:0002360
15 aneurysm typical (50%) HP:0002617
16 scoliosis typical (50%) HP:0002650
17 arthralgia typical (50%) HP:0002829
18 protrusio acetabuli typical (50%) HP:0003179
19 decreased body weight typical (50%) HP:0004325
20 hypoplasia of the zygomatic bone typical (50%) HP:0010669
21 dural ectasia typical (50%) HP:0100775
22 cleft palate occasional (7.5%) HP:0000175
23 dolichocephaly occasional (7.5%) HP:0000268
24 micrognathia occasional (7.5%) HP:0000347
25 glaucoma occasional (7.5%) HP:0000501
26 retinal detachment occasional (7.5%) HP:0000541
27 ectopia lentis occasional (7.5%) HP:0001083
28 limitation of joint mobility occasional (7.5%) HP:0001376
29 congestive heart failure occasional (7.5%) HP:0001635
30 abnormality of the aortic valve occasional (7.5%) HP:0001646
31 meningocele occasional (7.5%) HP:0002435
32 aortic dissection occasional (7.5%) HP:0002647
33 kyphosis occasional (7.5%) HP:0002808
34 myalgia occasional (7.5%) HP:0003326
35 hernia of the abdominal wall occasional (7.5%) HP:0004299
36 abnormality of the endocardium occasional (7.5%) HP:0004306
37 reduced bone mineral density occasional (7.5%) HP:0004349
38 arterial dissection occasional (7.5%) HP:0005294
39 attention deficit hyperactivity disorder occasional (7.5%) HP:0007018
40 flat cornea occasional (7.5%) HP:0007720
41 chest pain occasional (7.5%) HP:0100749
42 esotropia rare (5%) HP:0000565
43 exotropia rare (5%) HP:0000577
44 autosomal dominant inheritance HP:0000006
45 tall stature HP:0000098
46 narrow palate HP:0000189
47 high palate HP:0000218
48 dolichocephaly HP:0000268
49 malar flattening HP:0000272
50 narrow face HP:0000275
51 long face HP:0000276
52 retrognathia HP:0000278
53 micrognathia HP:0000347
54 deeply set eye HP:0000490
55 downslanted palpebral fissures HP:0000494
56 glaucoma HP:0000501
57 cataract HP:0000518
58 retinal detachment HP:0000541
59 myopia HP:0000545
60 dental crowding HP:0000678
61 pectus excavatum HP:0000767
62 pectus carinatum HP:0000768
63 decreased subcutaneous fat HP:0001002
64 striae distensae HP:0001065
65 ectopia lentis HP:0001083
66 arachnodactyly HP:0001166
67 flexion contracture HP:0001371
68 joint hypermobility HP:0001382
69 overgrowth HP:0001548
70 mitral valve prolapse HP:0001634
71 congestive heart failure HP:0001635
72 mitral regurgitation HP:0001653
73 aortic regurgitation HP:0001659
74 tricuspid valve prolapse HP:0001704
75 pes cavus HP:0001761
76 pes planus HP:0001763
77 hammertoe HP:0001765
78 emphysema HP:0002097
79 pneumothorax HP:0002107
80 aortic root dilatation HP:0002616
81 ascending aortic aneurysm HP:0002631
82 aortic dissection HP:0002647
83 kyphoscoliosis HP:0002751
84 genu recurvatum HP:0002816
85 premature osteoarthritis HP:0003088
86 protrusio acetabuli HP:0003179
87 decreased muscle mass HP:0003199
88 spondylolisthesis HP:0003302
89 incisional hernia HP:0004872
90 pulmonary artery dilatation HP:0004927
91 premature calcification of mitral annulus HP:0005136
92 hypoplasia of the iris HP:0007676
93 increased axial globe length HP:0007800
94 medial rotation of the medial malleolus HP:0008132
95 dural ectasia HP:0100775

Drugs & Therapeutics for Marfan Syndrome

About this section

Drugs for Marfan Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 11)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1
AtenololapprovedPhase 4, Phase 3, Phase 29829122-68-72249
Synonyms:
( inverted question mark)-Atenolol
(+-)-4-(2-Hydroxy-3-isopropylaminopropoxy)phenylacetamide
(+-)-Atenolol
(+/-)-4-[2-Hydroxy-3-[(1-methylethyl)amino]propoxy]benzeneacetamide
(1)-2-(4-(2-Hydroxy-3-(isopropylamino)propoxy)phenyl)acetamide
(?)-Atenolol
1-p-Carbamoylmethylphenoxy-3-isopropylamino-2-propanol
2-(4-(2-Hydroxy-3-isopropylaminopropoxy)phenyl)acetamid
2-(4-{2-hydroxy-3-[(propan-2-yl)amino]propoxy}phenyl)acetamide
2-(p-(2-Hydroxy-3-(isopropylamino)propoxy)phenyl)acetamide
2-[4-(2-Hydroxy-3-isopropylaminopropoxy)phenyl]acetamide
2-[4-({2-hydroxy-3-[(1-methylethyl)amino]propyl}oxy)phenyl]acetamide
2-[4-[2-hydroxy-3-(propan-2-ylamino)propoxy]phenyl]acetamide
2-{4-[2-hydroxy-3-(propan-2-ylamino)propoxy]phenyl}acetamide
29122-68-7
4-(2-Hydroxy-3-((1-methylethyl)amino)propoxy)benzeneacetamide
4-[2 -Hydroxy-3 -(isopropylamino)-propoxy]phenylacetamide
4-[2'-Hydroxy-3'-(isopropylamino)propoxy]phenylacetamide
60966-51-0
A 7655
A7655_SIGMA
AC-11142
AC1L1D99
AC1Q1QBX
AKOS005111050
ARONIS23884
Acetamide,2-(p-(2-hydroxy-3-(isopropylamino)propoxy)phenyl)
Aircrit
Alinor
Altol
Anselol
Antipressan
Apo-Atenolol
Atcardil
Atecard
Atehexal
Atenblock
Atendol
Atenet
Ateni
Atenil
Atenol
Atenol 1A Pharma
Atenol 1A pharma
Atenol AL
Atenol Acis
Atenol Atid
Atenol CT
Atenol Cophar
Atenol Fecofar
Atenol GNR
Atenol Gador
Atenol Genericon
Atenol Heumann
Atenol MSD
Atenol NM Pharma
Atenol Nordic
Atenol PB
Atenol Quesada
Atenol Stada
Atenol Tika
Atenol Trom
Atenol Von CT
Atenol acis
Atenol ct
Atenol von ct
Atenol-Mepha
Atenol-Ratiopharm
Atenol-Wolff
Atenol-ratiopharm
Atenolin
Atenolol
Atenolol (JAN/USP)
Atenolol (JP15/USP/INN)
Atenolol [USAN:BAN:INN:JAN]
Atenolol [USAN:INN:BAN:JAN]
Atenololum
Atenololum [INN-Latin]
Atenomel
Atereal
Aterol
BB_SC-1519
BIM-0050109.0001
BRD-A20239487-001-02-5
BRN 2739235
BSPBio_002915
Betablok
Betacard
Betasyn
Betatop GE
Betatop Ge
Blocotenol
Blokium
CCRIS 4196
CHEBI:2904
CHEMBL24
CID2249
CPD000036768
Cardaxen
Cardiopress
Corotenol
Cuxanorm
D001262
D00235
DB00335
DivK1c_000057
Duraatenolol
Duratenol
 
EINECS 249-451-7
EINECS 262-544-7
EU-0100121
Evitocor
Farnormin
Felo-Bits
HMS1569L13
HMS1921H09
HMS2090I19
HMS2092D19
HMS500C19
HSDB 6526
Hipres
Hypoten
I01-3572
ICI 66,082
ICI 66082
ICI-66082
ICI66082
IDI1_000057
Ibinolo
InChI=1/C14H22N2O3/c1-10(2)16-8-12(17)9-19-13-5-3-11(4-6-13)7-14(15)18/h3-6,10,12,16-17H,7-9H2,1-2H3,(H2,15,18)
Internolol
Jenatenol
Juvental
KBio1_000057
KBio2_001844
KBio2_004412
KBio2_006980
KBio3_002415
KBioGR_000790
KBioSS_001844
L000116
LS-28557
LS-9707
Lo-Ten
Lo-ten
Lopac0_000121
Loten
Lotenal
MLS000069622
MLS001066372
MLS001074163
MLS001304038
MolPort-001-792-717
Myocord
NCGC00015007-07
NCGC00015007-13
NCGC00024566-03
NCGC00024566-04
NCGC00024566-05
NCGC00024566-06
NCGC00024566-07
NINDS_000057
Neatenol
Normalol
Normiten
Noten
Oprea1_448775
Oraday
Ormidol
Panapres
Plenacor
Premorine
Prenolol
Prenormine
Prinorm
SAM002564193
SMR000036768
SPBio_001482
SPECTRUM1501127
STK528649
Scheinpharm Atenol
Seles Beta
Seles beta
Selobloc
Serten
Servitenol
Spectrum2_001411
Spectrum3_001448
Spectrum4_000435
Spectrum5_001509
Spectrum_001364
Stermin
Tenidon
Teno-Basan
Teno-basan
Tenobloc
Tenoblock
Tenolol
Tenoprin
Tenoretic
Tenormin
Tenormin (TN)
Tenormine
Tenormine [French]
Tensimin
Tensotin
Tredol
UNII-50VV3VW0TI
Unibloc
Uniloc
Vascoten
Vericordin
Wesipin
Xaten
atenolol
benzeneacetamide, 4-[2'-hydroxy-3
duratenol
2
VerapamilapprovedPhase 411252-53-92520
Synonyms:
(+-)-Verapamil
(+/-)-VERAPAMIL
(1)-3-(3,4-Dimethoxyphenyl)-6-((5,6-dimethoxyphenethyl)methylamino)hexane-3-carbonitrile
2-(3,4-Dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methyl-amino]-2-(1-methylethyl) pentanenitrile
2-(3,4-dimethoxyphenyl)-5-[2-(3,4-dimethoxyphenyl)ethyl-methylamino]-2-propan-2-ylpentanenitrile
2-(3,4-dimethoxyphenyl)-5-{[2-(3,4-dimethoxyphenyl)ethyl](methyl)amino}-2-(propan-2-yl)pentanenitrile
5-((3,4-Dimethoxyphenethyl)methylamino)-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
5-[(3,4-Dimethoxyphenethyl)methylamino]-2-(3,4-dimethoxyphenyl)-2-isopropylvaleronitrile
52-53-9
56949-77-0
AB00053495
AC-16016
AC1L1DV5
Akilen
Anpec
Apo-Verap
Arpamyl
Arpamyl LP
BPBio1_000268
BRD-A09533288-001-02-7
BRD-A09533288-003-05-6
BSPBio_000242
BSPBio_001513
BSPBio_002358
Berkatens
Bio-0754
Bio1_000425
Bio1_000914
Bio1_001403
Bio2_000233
Bio2_000713
C07188
C27H38N2O4
CCRIS 6749
CHEBI:9948
CHEMBL6966
CID2520
CP-16533-1
CP-165331
Calan
Calan SR
Calan Sr
Calan sr
Calaptin
Calaptin 240 SR
Calcan
Cardiabeltin
Cardiagutt
Cardibeltin
Cardioprotect
Caveril
Civicor
Civicor Retard
Coraver
Cordilox
Cordilox SR
Corpamil
Covera-HS
Covera-Hs
Covera-hs
D-365
D02356
DB00661
Dexverapamil
Dignover
Dilacoran
Dilacoran HTA
DivK1c_000399
Drosteakard
Durasoptin
EINECS 200-145-1
EINECS 260-462-6
Elthon
FT-0080127
Falicard
Finoptin
Flamon
Geangin
HMS1791L15
HMS1989L15
HMS2089H17
Harteze
Hexasoptin
Hexasoptin Retard
Hormitol
I06-0063
IDI1_000399
IDI1_033983
Ikacor
Ikapress
Inselon
Iproveratril
Isoptimo
Isoptin
Isoptin Retard
Isoptin SR
Isoptin sr
Isoptine
Isoptino
Isotopin
Izoptin
Jenapamil
KBio1_000399
KBio2_000233
KBio2_002343
KBio2_002801
KBio2_004911
KBio2_005369
KBio2_007479
KBio3_000465
KBio3_000466
KBio3_002823
KBioGR_000233
 
KBioGR_001372
KBioGR_002343
KBioSS_000233
KBioSS_002346
L001330
LS-174
Lekoptin
Lodixal
Lopac0_001237
Magotiron
Manidon
Manidon Retard
MolPort-000-721-258
NCGC00016083-14
NCGC00024710-04
NCGC00024710-05
NCGC00024710-06
NCGC00024710-07
NCGC00024710-08
NCGC00024710-09
NCI60_020143
NINDS_000399
NSC272366
NU-Verap
Novapamyl LP
Novo-Veramil
Nu-Verap
Ormil
Praecicor
Prestwick0_000141
Prestwick1_000141
Prestwick2_000141
Prestwick3_000141
Quasar
Rapam
Robatelan
SID104171262
SID124881789
SID124881790
SPBio_001820
SPBio_002181
STK538085
Securon
Spectrum2_001740
Spectrum4_000906
Spectrum5_001786
Tarka
UNII-CJ0O37KU29
Univer
Univex
VERAPAMIL
Vasolan
Vasomil
Vasopten
Vera-Sanorania
Verabeta
Veracaps SR
Veracim
Veracor
Verahexal
Veraloc
Veramex
Veramil
Verapamil
Verapamil (USAN/INN)
Verapamil AL
Verapamil Acis
Verapamil Atid
Verapamil Basics
Verapamil Ebewe
Verapamil HCl
Verapamil Henning
Verapamil Hydrochloride
Verapamil Injection
Verapamil MSD
Verapamil NM
Verapamil NM Pharma
Verapamil Nordic
Verapamil PB
Verapamil Riker
Verapamil SR
Verapamil Verla
Verapamil [USAN:BAN:INN]
Verapamil [USAN:INN:BAN]
Verapamil [Usan:Ban:Inn]
Verapamil-AbZ
Verapamilo
Verapamilo [INN-Spanish]
Verapamilum
Verapamilum [INN-Latin]
Verapin
Verapress 240 SR
Veraptin
Verasal
Verasifar
Veratensin
Verdilac
Verelan
Verelan PM
Verelan Pm
Verelan SR
Verexamil
Veroptinstada
Verpamil
Vetrimil
Vortac
Vérapamil
alpha-((N-Methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
alpha-(3-((2-(3,4-Dimethoxyphenyl)ethyl)-methylamino)propyl)-3,4-dimethoxy-alpha-(1-methylethyl)benzeneacetonitrile
alpha-Isopropyl-alpha-((N-methyl-N-homoveratryl)-gamma-aminopropyl)-3,4-dimethoxyphenylacetonitrile
cMAP_000023
delta-365
nchembio.368-comp2
nchembio.79-comp5
3
PerindoprilapprovedPhase 4, Phase 337107133-36-8107807
Synonyms:
(2S)-2-[(1S)-1-Carbethoxybutylamino]-1-oxopropyl-(2S,3aS,7aS)-perhydroindole-2-carboxylic acid
(2S,3AS,7as)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid
(2S,3aS,7aS)-1-[(2S)-2-[[(2S)-1-ethoxy-1-oxopentan-2-yl]amino]propanoyl]-2,3,3a,4,5,6,7,7a-octahydroindole-2-carboxylic acid
(2S,3aS,7aS)-1-[(2S)-2-{[(2S)-1-ethoxy-1-oxopentan-2-yl]amino}propanoyl]octahydro-1H-indole-2-carboxylic acid
82834-16-0
82834-16-0 (Parent)
99149-83-4
AC1L32S9
ACEON
Aceon
BIDD:GT0786
BRD-K92731339-227-02-3
BSPBio_003206
C07706
C19H32N2O5
CHEBI:8024
CHEMBL1581
CID107807
Coverene Cor
Coverex
Coversum
Coversyl
D03753
DB00790
DW-7950
 
KBio2_002494
KBio2_005062
KBio2_007630
KBio3_002426
KBioGR_001190
KBioSS_002502
LS-178402
MLS002154153
McN-A-2833
MolPort-005-935-307
PERINDOPRIL
Perindopril (USAN/INN)
Perindopril Erbumine
Perindoprilum
Prestarium
S-9490
SED-9490
SMR001233453
SPBio_001216
Spectrum2_001108
Spectrum3_001683
Spectrum4_000775
Spectrum5_001689
Spectrum_001948
cpd with unspecified MF
ethyl N-{(2S)-1-[(2S,3aS,7aS)-2-carboxyoctahydro-1H-indol-1-yl]-1-oxopropan-2-yl}-L-norvalinate
4Calcium, DietaryPhase 43529
5
LosartanapprovedPhase 3, Phase 2265114798-26-43961
Synonyms:
(2-Butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1H-imidazol-5-yl)methanol
(2-butyl-4-chloro-1-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1H-imidazol-5-yl)methanol
114798-26-4
124750-99-8 (mono-potassium salt)
1H-Imidazole-5-methanol, 2-butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl]- (9CI)
2-Butyl-4-chloro-1-((2'-(1H-etrazol-5-yl) (1,1'-biphenyl)-4-yl)methyl)-1H-imidazole-5-methanol
2-Butyl-4-chloro-1-[[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl-1H-imidazole-5-methanol
2-N-Butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-butyl-4-chloro-1-[p-(o-1H-tetrazol-5ylphenyl)benzyl]imidazole-5-methanol
2-n-butyl-4-chloro-5-hydroxymethyl-1-[(2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl]imidazole
2-n-butyl-4-chloro-5-hydroxymethyl-1-[[2'-(1H-tetrazol-5-yl)-biphenyl-4-yl]methyl]imidazole
AC1L1H3Q
BIDD:GT0286
BRD-K76205745-001-02-5
BSPBio_002695
C07072
C22H23ClN6O
CHEBI:6541
CHEMBL191
CID3961
CL23623
Cozaar
D08146
DB00678
DUP 89
DuP 89
DuP-753
HMS1922J13
HMS2093E22
Hyzaar
I14-9710
Jsp001094
KBio2_002193
 
KBio2_004761
KBio2_007329
KBio3_001915
KBioGR_001611
KBioSS_002193
L000351
LOSARTAN POTASSIUM
LS-78746
Lacidipine
Lortaan
Losartan
Losartan (INN)
Losartan Potassium
Losartan [INN:BAN]
Losartan monopotassium salt
Losartic
Losartic (TN)
MK-954
MK954
MolPort-003-666-553
NCGC00095125-01
NCGC00095125-02
NCGC00095125-03
Oprea1_644635
SPBio_001893
SPECTRUM1504268
Spectrum2_001677
Spectrum3_000998
Spectrum4_001126
Spectrum5_001466
Spectrum_001713
UNII-JMS50MPO89
[2-butyl-5-chloro-3-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]imidazol-4-yl]methanol
losartan
losartan potassium
6
Nebivololapproved, investigationalPhase 379152520-56-4, 99200-09-671301
Synonyms:
1,1'-Bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-yl)-2,2'-iminodiethanol
1,1'-[Bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-yl)]-2,2'-iminodiethanol
1-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)-2-[[2-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)-2-hydroxyethyl]amino]ethanol
104365-59-5
118457-14-0
2,2'-iminobis[1-(6-fluoro-3,4-dihydro-2H-chromen-2-yl)ethanol]
99200-09-6
AC-1611
AC1L2FX8
AC1Q4OMF
Bystolic
C22H25F2NO4
CHEMBL434394
CID71301
D05127
DB04861
I06-0378
L001284
LS-178404
Lobivon
MolPort-003-849-343
Nebicard-5
 
Nebilet
Nebilong
Nebipill
Nebivolol
Nebivolol (USAN/INN)
Nebivolol [USAN:INN:BAN]
Nebivolol hydrochloride
Nebivololum
Nebivololum [Latin]
Nebivololum [latin]
Nubeta
PDSP1_000244
PDSP2_000243
PI-21858
R 67555
R-67555
R65,824
UNII-030Y90569U
alpha,Alpha'-(iminobismethylene)bis-(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-methanol)
alpha,Alpha'-(iminodimethylene)bis-(6-fluoro-2-chromanmethanol)
alpha,alpha'-(Iminobis(methylene))bis(6-fluoro-3,4-dihydro-2H-1-benzopyran-2-methanol)
alpha,alpha'-(Iminodimethylene)bis(6-fluoro-2-chromanmethanol)
alpha,alpha'-(iminobis(methylene))bis(6-fluoro-3,4-dihydro)-2H-1-benzopyran-2-methanol
7Angiotensin II Type 1 Receptor BlockersPhase 3, Phase 2928
8
Angiotensin IIPhase 3, Phase 298568521-88-0, 11128-99-7172198
Synonyms:
1-8-Angiotensin I
1-L-Aspasaginyl-5-L-valyl angiotensin octapeptide
Ang II
Angiotensin 2
Angiotensin II (human)
 
Angiotensin II (mouse)
Angiotonin
Asp-arg-val-TYR-ile-his-pro-phe
Human angiotensin II
Hypertensin
Ile(5)-angiotensin II
9
Irbesartanapproved, investigationalPhase 295138402-11-63749
Synonyms:
138402-11-6
2-Butyl-3-(p-(o-1H-tetrazol-5-ylphenyl)benzyl)-1,3-diazaspiro(4.4)non-1-en-4-one
2-Butyl-3-[2'-(1H-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[4.4]non-1-en-4-one
2-Butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-[ p -( o -1 H -tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4,4]non-1-en-4-one
2-butyl-3-[2'-(1h-tetrazol-5-yl)-biphenyl-4-ylmethyl]-1,3-diaza-spiro[
2-butyl-3-[2'-(1h-tetrazol-5-yl)biphenyl-4-ylmethyl]1,3-diaza-spiro[
2-butyl-3-[p-(o-1H-tetrazol-5-ylphenyl)benzyl]-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)[1,1'-biphenyl]-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-butyl-3-{[2'-(1H-tetrazol-5-yl)biphenyl-4-yl]methyl}-1,3-diazaspiro[4.4]non-1-en-4-one
2-n-butyl-3-((2'-(1H-tetrazol-5-yl)biphenyl-4-yl)methyl)-1,3-diazaspiro(4,4)non-1-en-4-one
8-butyl-7-[[4-[2-(2H-tetrazol-5-yl)phenyl]phenyl]methyl]-7,9-diazaspiro[4.4]non-8-en-6-one
AC-537
AC1L1GMK
Aprovel
Avalide
Avapro
Avapro (TN)
BIDD:GT0347
BMS 186295
BMS Brand of Irbesartan
BMS-186295
BMS-186295, SR-47436, Aprovel, Karvea, Irbesartan
BRD-K60038276-001-02-5
BSPBio_002687
Bio-0053
Bristol Myers Brand of Irbesartan
C07469
C081309
C25H28N6O
CHEBI:5959
CHEMBL1513
CID3749
CPD000466306
D00523
DB01029
HMS1922J05
HMS2051L08
HMS2093E16
 
I06-0690
Irbesarran
Irbesartan
Irbesartan (JAN/USAN/INN)
Irbesartan [USAN:INN]
Irbesartan [Usan:Inn]
Irbetan
Jsp002315
KBio2_002231
KBio2_004799
KBio2_007367
KBio3_001907
KBioGR_001603
KBioSS_002231
Karvea
L000319
LS-60064
Lrbesartan
MLS000759408
MLS001424099
MolPort-003-666-550
NCGC00095122-01
NCGC00095122-02
NCGC00095122-03
S1507_Selleck
SAM001246548
SMR000466306
SPBio_001889
SPECTRUM1504259
SR 47436
SR-47436
STK645362
Sanofi Winthrop Brand of Irbesartan
Spectrum2_001675
Spectrum3_000994
Spectrum4_001122
Spectrum5_001288
Spectrum_001751
TL8000875
UNII-J0E2756Z7N
irbesartan
10
Propranololapproved, investigationalPhase 2194525-66-64946
Synonyms:
(+-)-Propranolol
(1)-1-(Isopropylamino)-3-(naphthyloxy)propan-2-ol
(R)-(+)-propranolol
(S)-(-)-PROPRANOLOL
1-((1-Methylethyl)amino)-3-(1-naphthalenyloxy)-2-propanol
1-(1-Naphthyloxy)-2-hydroxy-3-(isopropylamino)propane
1-(Isopropylamino)-3-(1-naphthoxy)-propan-2-ol
1-(Isopropylamino)-3-(1-naphthyloxy)-2-propanol
1-(isopropylamino)-3-(1-naphthyloxy)propan-2-ol
1-(naphthalen-1-yloxy)-3-(propan-2-ylamino)propan-2-ol
1-Isopropylamino-3-(1-naphthyloxy)-2-propanol
1-[(1-methylethyl)amino]-3-(naphthalen-1-yloxy)propan-2-ol
1-naphthalen-1-yloxy-3-(propan-2-ylamino)propan-2-ol
13013-17-7
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)- (9CI)
2-Propanol, 1-((1-methylethyl)amino)-3-(1-naphthalenyloxy)-, (+-)- (9CI)
3-(naphthalen-1-yloxy)-1-(propan-2-ylamino)propan-2-ol
4199-09-1
4199-10-4
525-66-6
AB00053537
AC1L1JA4
AC1Q1QBV
AC1Q1QC0
AKOS000588816
AY 64043
AY-20694
Anaprilin
Anapriline
Angilol
Apsolol
Avlocardyl
BPBio1_001040
BRD-A10070317-003-06-9
BSPBio_000944
BSPBio_002682
Bedranol
Beprane
Berkolol
Beta Neg
Beta-Neg
Beta-Propranolol
Beta-Tablinen
Beta-Timelets
Betachron
Betadren
Betalong
Bio-0732
Bio1_000367
Bio1_000856
Bio1_001345
C07407
C16H21NO2
CBDivE_006180
CCRIS 3082
CHEBI:8499
CHEMBL27
CID4946
Cardinol
Caridolol
Corpendol
D,L-Propranolol
D08443
DB00571
DL-Propranolol hydrochloride
Deralin
DivK1c_000023
Dl-Propranolol Hydrochloride
Dociton
Duranol
EINECS 208-378-0
EINECS 235-867-6
Efektolol
Elbrol
Etalong
Euprovasin
Frekven
HMS2090L21
Hemangeol
Herzbase
ICI 45520
IDI1_000023
INDERIDE-40/25
INDERIDE-80/25
Ikopal
Inderal
Inderal LA
Inderal La
Inderal hydrochloride
Inderalici
Inderex
Inderide
Inderol
Indobloc
 
Innopran XL
Innopran Xl
Intermigran
KBio1_000023
KBio2_002515
KBio2_005083
KBio2_007651
KBio3_001766
KBio3_001902
KBio3_002993
KBioGR_001347
KBioGR_001684
KBioGR_002515
KBioSS_002523
Kemi
Kemi S
L000679
LS-122410
LS-184129
Lopac0_000896
Migrastat
MolPort-001-794-623
NCGC00015798-07
NCGC00024690-02
NCGC00024690-03
NINDS_000023
NSC91523
Naprilin
Obsidan
Obzidan
Oposim
Oprea1_304193
PDSP1_000767
PDSP1_001607
PDSP1_001608
PDSP2_000755
PDSP2_001591
PDSP2_001592
Prano-Puren
Pranolol
Prestwick0_000952
Prestwick1_000952
Prestwick2_000952
Prestwick3_000952
Pronovan
Propanalol
Propanix
Propanolol
Propanolol [INN-Spanish]
Prophylux
Propranalol
Propranolol
Propranolol (INN)
Propranolol (TN)
Propranolol Hcl
Propranolol Hcl Intensol
Propranolol Hydrochloride
Propranolol [INN:BAN]
Propranololo
Propranololo [DCIT]
Propranololum
Propranololum [INN-Latin]
Propranur
Proprasylyt
Pylapron
R,S-Propranolol Hydrochloride
Racemic propranolol
Rapynogen
Reducor
Reducor Line
Reducor line
SPBio_001361
SPBio_001658
SPBio_003093
STK735510
Sagittol
Sawatal
Servanolol
Sloprolol
Spectrum2_001301
Spectrum2_001699
Spectrum3_000883
Spectrum3_001071
Spectrum4_000974
Spectrum4_001222
Spectrum5_000751
Sumial
Tesnol
UNII-9Y8NXQ24VQ
b-Propranolol
beta-Propranolol
cMAP_000071
etalong
propranolol
propranololo
β-Propranolol
11
Doxycyclineapproved, investigationalPhase 2204564-25-054671203, 5281011
Synonyms:
(2E,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(2Z,4S,4aR,5S,5aR,6R,12aS)-2-[amino(hydroxy)methylidene]-4-(dimethylamino)-5,10,11,12a-tetrahydroxy-6-methyl-4a,5,5a,6-tetrahydro-4H-tetracene-1,3,12-trione
(4S,4AR,5S,5ar,6R,12as)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
(4S,4aR,5S,5aR,6R,12aS)-4-(dimethylamino)-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-1,4,4a,5,5a,6,11,12a-octahydrotetracene-2-carboxamide
10597-92-9
17086-28-1 (mono-hydrate)
2-Naphthacenecarboxamide, 4-(dimethylamino)-1,4,4a,5,5a,6,11,12a-octahydro-3,5,10,12,12a-pentahydroxy-6-methyl-1,11-dioxo-, (4S,4aR,5S,5aR,6R,12aS)
24390-14-5
41411-66-9 (6-epimer, mono-hydrochloride)
5-Hydroxy-alpha-6-deoxytetracycline
564-25-0
6-Deoxyoxytetracycline
6-Deoxytetracycline
6-alpha-Deoxy-5-oxytetracycline
6-alpha-deoxy-5-oxytetracycline
69935-17-7 (mono-hydrochloride, di-hydrate)
6alpha-Deoxy-5-oxytetracycline
6α-deoxy-5-oxytetracycline
7164-70-7
7264-10-0
94088-85-4 (calcium salt (1:2))
AB08 (*Fosfatex)
AC1NQXW7
AC1NS4CW
AC1NUYS8
AC1O8PYM
Adoxa
Alodox
Alti-Doxycycline
Apo-Doxy
Atridox
Azudoxat
BCBcMAP01_000024
BIDD:GT0146
BMY-28689
BPBio1_000951
BSPBio_000863
BSPBio_001936
BU-3839T
C06973
CHEBI:50845
CHEMBL1433
CID5281011
CID5353597
CID5463943
CID6713981
CPD001550033
D07876
DB00254
DMSC (*Fosfatex)
DOXCYCLINE ANHYDROUS
DOXY
DOXYCYCLINE CALCIUM
DOXYCYCLINE MONOHYDRATE
Deoxymykoin
DivK1c_000345
Doryx
Dossiciclina
Dossiciclina [DCIT]
Doxcycline anhydrous
Doxiciclina
Doxiciclina [INN-Spanish]
Doxiciclina [Italian]
Doxitard
Doxivetin
Doxy 100
Doxy-Caps
Doxy-Puren
Doxy-Tabs
Doxycen
Doxychel
Doxychel (TN)
Doxycin
Doxycyclin
Doxycycline
Doxycycline (200mg/day) or Placebo
Doxycycline (INN)
 
Doxycycline (TN)
Doxycycline (anhydrous)
Doxycycline (internal use)
Doxycycline Hyclate
Doxycycline Monohydrate
Doxycycline anhydrous
Doxycycline hyclate
Doxycycline hydrochloride
Doxycycline-Chinoin
Doxycyclinum
Doxycyclinum [INN-Latin]
Doxysol
Doxytec
Doxytetracycline
EINECS 209-271-1
GS-3065 (*monohydrate)
HMS2090E06
HSDB 3071
Hydramycin
IDI1_000345
Investin
Jenacyclin
KBio1_000345
KBio2_001287
KBio2_003855
KBio2_006423
KBio3_001156
KBioGR_001133
KBioSS_001287
LS-187766
LS-93868
Liviatin
Lopac0_000405
MolPort-002-507-423
Monodox
Monodox (*monohydrate)
Morgidox
NCGC00161602-01
NCGC00161602-03
NCGC00161602-04
NCGC00167961-01
NCGC00179395-01
NINDS_000345
NSC633557
Novo-Doxylin
Nu-Doxycycline
Ocudox
Oracea
Prestwick0_000852
Prestwick1_000852
Prestwick2_000852
Prestwick3_000852
Ronaxan
SAM002589932
SMP1_000107
SPBio_000246
SPBio_002784
STOCK1N-34341
Spanor
Spectrum2_000143
Spectrum3_000408
Spectrum4_000527
Spectrum5_000947
Spectrum_000807
Supracyclin
UNII-334895S862
UPCMLD-DP021
UPCMLD-DP021:001
Vibra-tabs
Vibramycin
Vibramycin (*monohydrate)
Vibramycin Monohydrate
Vibramycin Novum
Vibramycine
Vibravenos
Vivox (*Hyclate)
alpha-6-Deoxy-5-hydroxytetracycline
alpha-6-Deoxyoxytetracycline
alpha-Doxycycline
doxycycline

Interventional clinical trials:

(show all 31)
idNameStatusNCT IDPhase
1Comparison of Medical Therapies in Marfan Syndrome.CompletedNCT01295047Phase 4
2Endoscopic Ultrasound-guided Fine Needle Aspiration of Solid Masses: Histological and Immunohistochemical EvaluationCompletedNCT01437410Phase 4
3Effects of Losartan Versus Atenolol on Aortic and Cardiac Muscle Stiffness in Adults With Marfan SyndromeCompletedNCT00723801Phase 3
4Angiotensin Converting Enzyme Inhibitors in Marfan SyndromeCompletedNCT00485368Phase 3
5Comparison of Two Medications Aimed at Slowing Aortic Root Enlargement in Individuals With Marfan Syndrome--Pediatric Heart NetworkCompletedNCT00429364Phase 3
6Comparison Study of the Effect of Aliskiren Versus Negative Controls on Aortic Stiffness in Patients With Marfan Syndrome Under Treatment With AtenololRecruitingNCT01715207Phase 3
7Randomized, Double-blind Study for the Evaluation of the Effect of Losartan Versus Placebo on Aortic Root Dilatation in Patients With Marfan Syndrome Under Treatment With Beta-blockersRecruitingNCT00782327Phase 3
8Nebivolol Versus Losartan Versus Nebivolol+Losartan Against Aortic Root Dilation in Genotyped Marfan PatientsRecruitingNCT00683124Phase 3
9Artisan Aphakia Lens for the Correction of Aphakia in ChildrenRecruitingNCT01547442Phase 3
10Atenolol Versus Losartan in the Prevention of Progressive Dilation of the Aorta in Marfan SyndromeActive, not recruitingNCT01145612Phase 3
11Study of the Efficacy of Losartan on Aortic Dilatation in Patients With Marfan SyndromeTerminatedNCT00763893Phase 3
12Circulating Transforming Growth Factor Beta (TGF-β) in Individuals With Marfan SyndromeWithdrawnNCT01361087Phase 3
13Losartan Versus Atenolol for the Treatment of Marfan SyndromeCompletedNCT00593710Phase 2
14A Randomized, Open-label, LOSARTAN Therapy on the Progression of Aortic Root Dilation in Patients With Marfan SyndromeRecruitingNCT00651235Phase 2
15The Oxford Marfan TrialRecruitingNCT01949233Phase 2
16Clinical Study of the Efficacy and Safety of the Application of Allogeneic Mesenchymal (Stromal) Cells of Bone Marrow, Cultured Under the Hypoxia in the Treatment of Patients With Severe Pulmonary EmphysemaRecruitingNCT01849159Phase 1, Phase 2
17Maintaining Muscle Mass GainsNot yet recruitingNCT02621346Phase 2
18Clinical Variability in Marfan SyndromeCompletedNCT01707563
19Studies of Heritable Disorders of Connective TissueCompletedNCT00270686
20Study of Heritable Connective Tissue DisordersCompletedNCT00001641
21Family Myopia StudyCompletedNCT00341549
22Aortopathy in Persons With Bicuspid Aortic Valve, Turner and Marfan SyndromeRecruitingNCT01760668
23Development of a Blood Test for Marfan SyndromeRecruitingNCT02148900
24Micro RNAs as a Marker of Aortic Aneurysm in Hereditary Aortopathy SyndromesRecruitingNCT02213484
25Risk of Rupture of Aneurysms of the Thoracic Ascending Aorta (ATA) From the Dynamic ImagingRecruitingNCT02538822
26Genetic Study of the FBN1 Gene and Fibrillin-1 Abnormalities in Choctaw Native Americans and Other Patients With Systemic SclerosisRecruitingNCT00006393
27Exercise Stress MRI to Evaluate Aortic Function (Compliance, Distensibility, Pulse Wave Velocity) and Left Ventricular Function : Validation in Healthy Volunteers and in Selected Patients. A Pilot Study.RecruitingNCT02018835
28Screening for Thoracic Aortic Aneurysm Among a Cohort of Patients With a Degenerative Abdominal Aortic AneurysmRecruitingNCT01599533
29Thoracic Aortic Dilatation SyndromesActive, not recruitingNCT02111668
30National Registry of Genetically Triggered Thoracic Aortic Aneurysms and Cardiovascular ConditionsActive, not recruitingNCT01322165
31Real-time 3-Dimensional Echocardiography for Assessment of Cardiac Function and Congenital Heart DiseaseWithdrawnNCT01300221

Search NIH Clinical Center for Marfan Syndrome


Cochrane evidence based reviews: Marfan Syndrome

Genetic Tests for Marfan Syndrome

About this section

Genetic tests related to Marfan Syndrome:

id Genetic test Affiliating Genes
1 Marfan Syndrome22 FBN1
2 Marfan's Syndrome24

Anatomical Context for Marfan Syndrome

About this section

MalaCards organs/tissues related to Marfan Syndrome:

33
Heart, Bone, Eye, Lung, Skin, Testes, Spinal cord

Animal Models for Marfan Syndrome or affiliated genes

About this section

MGI Mouse Phenotypes related to Marfan Syndrome:

38 (show all 16)
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053828.6CBS, DCN, FBN1, MMP2, TGFB1, TGFBR2
2MP:00020068.6DCN, MMP2, TGFB1, TGFBR1, TGFBR2
3MP:00107717.7CBS, COL1A2, DCN, EGF, FBN1, TGFB1
4MP:00053907.6CD36, COL1A2, DCN, ELN, FBN1, FBN2
5MP:00053867.6CBS, CD36, COL1A2, DCN, FBN1, FBN2
6MP:00053847.5CBS, CD36, COL1A2, DCN, FBN1, FBN2
7MP:00053887.5CBS, DCN, ELN, FBN1, FBN2, MMP2
8MP:00053797.3CBS, CD36, DCN, EGF, FBN1, TGFB1
9MP:00053976.9CBS, CD36, DCN, FBN1, MMP2, TGFB1
10MP:00053766.9CBS, CD36, DCN, ELN, FBN1, MMP2
11MP:00053916.7ACTA2, CBS, CD36, DCN, EGF, MMP2
12MP:00053856.5ACTA2, CBS, CD36, COL1A2, ELN, FBN1
13MP:00107686.3CBS, CD36, COL1A2, DCN, ELN, FBN1
14MP:00053876.3CBS, CD36, DCN, EGF, FBN1, MMP2
15MP:00053696.1ACTA2, CBS, CD36, COL1A2, DCN, ELN
16MP:00053786.1CBS, CD36, COL1A2, DCN, EGF, FBN1

Publications for Marfan Syndrome

About this section

Articles related to Marfan Syndrome:

(show top 50)    (show all 803)
idTitleAuthorsYear
1
Eligibility and Disqualification Recommendations for Competitive Athletes With Cardiovascular Abnormalities: TaskA Force 7: Aortic Diseases, IncludingA Marfan Syndrome: A Scientific Statement From the American Heart Association and American College of Cardiology. (26542664)
2015
2
Genetic analysis of the contribution of LTBP-3 to thoracic aneurysm in Marfan syndrome. (26494287)
2015
3
Distal aorta: the next frontier in managing Marfan syndrome aortic disease. (25614423)
2015
4
1156: EXTRACORPOREAL MEMBRANE OXYGENATION USE IN NEONATES AND CHILDREN WITH MARFAN SYNDROME. (26570817)
2015
5
Regional changes in elastic fiber organization and transforming growth factor I^ signaling in aortas from a mouse model of marfan syndrome. (25238995)
2014
6
The prevalence of bronchiectasis in patients with Marfan syndrome. (25199019)
2014
7
Retrospective analysis of the effect of angiotensin II receptor blocker versus I^-blocker on aortic root growth in paediatric patients with Marfan syndrome. (24270746)
2014
8
Angiotensin receptor blockers: a panacea for Marfan syndrome and related disorders? (25281853)
2014
9
MRI-assessed regional pulse wave velocity for predicting absence of regional aorta luminal growth in marfan syndrome. (23000269)
2013
10
Down syndrome masked by Marfan syndrome in a neonate. (23483062)
2013
11
Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice. (23100322)
2013
12
The Kid-Short Marfan Score (Kid-SMS) - an easy executable risk score for suspected paediatric patients with Marfan syndrome. (23110520)
2013
13
Endovascular treatment for type B dissection in Marfan syndrome: is it worthwhile? (23273625)
2013
14
First report of the genetic background of Marfan syndrome in two Polish patients. (24162367)
2013
15
Outcomes after valve-preserving root surgery for patients with Marfan syndrome. (23167226)
2012
16
Novel FBN1 mutation causes Marfan syndrome with bilateral ectopia lentis and refractory glaucoma. (22034023)
2012
17
Evaluating Japanese patients with the Marfan syndrome using high-throughput microarray-based mutational analysis of fibrillin-1 gene. (21907952)
2011
18
Dissecting aortic aneurysm with Marfan syndrome. (21317477)
2011
19
Echocardiographic findings in children with Marfan syndrome. (21161115)
2011
20
Comparison of the background, needs, and expectations for genetic counseling of adults with experience with Down syndrome, Marfan syndrome, and neurofibromatosis. (21344640)
2011
21
Comparison of aortic dissection in Chinese patients with and without Marfan syndrome. (21273360)
2011
22
Surgical management of aortic root disease in Marfan syndrome: a systematic review and meta-analysis. (21228428)
2011
23
The Marfan syndrome - features, natural history and treatment options - our experiences. (21617273)
2011
24
Critical appraisal of the revised Ghent criteria for diagnosis of Marfan syndrome. (21332468)
2011
25
Effectiveness of combination of losartan potassium and doxycycline versus single-drug treatments in the secondary prevention of thoracic aortic aneurysm in Marfan syndrome. (20189193)
2010
26
Large pulmonary artery aneurysm associated with Marfan syndrome. (22477577)
2010
27
Aortic valve sparing procedure combined with sternal turnover for Marfan syndrome. (20678110)
2010
28
Screening of FBN1 gene mutations in a family with Marfan syndrome]. (21211293)
2010
29
Marfan syndrome and schizophrenia: a case report and literature review. (20303004)
2010
30
May TGFBR1 act also as low penetrance allele in Marfan syndrome? (17936924)
2009
31
Characteristics in phenotypic manifestations of genetically proved Marfan syndrome in a Japanese population. (19361604)
2009
32
Increased prevalence of migraine in Marfan syndrome. (18678417)
2009
33
Marfan syndrome: a study of a Nigerian family and review of current cardiovascular management. (19662746)
2009
34
Chest pain in Marfan syndrome. (21686816)
2009
35
Bilateral radial artery aneurysms in the anatomical snuff box seen in marfan syndrome patient: case report and literature review. (23555380)
2009
36
An FBN1 pseudoexon mutation in a patient with Marfan syndrome: confirmation of cryptic mutations leading to disease. (18795226)
2008
37
Fatal aortic dissection in a patient with a family history of Marfan syndrome. (18669769)
2008
38
Search for correlations between FBN1 genotype and complete Ghent phenotype in 44 unrelated Norwegian patients with Marfan syndrome. (17663468)
2007
39
Effect of perindopril on large artery stiffness and aortic root diameter in patients with Marfan syndrome: a randomized controlled trial. (17911499)
2007
40
Identification and in silico analyses of novel TGFBR1 and TGFBR2 mutations in Marfan syndrome-related disorders. (16791849)
2006
41
Cardiac transplantation in neonatal Marfan syndrome -- a life-saving approach. (15704038)
2005
42
Task Force 4: HCM and other cardiomyopathies, mitral valve prolapse, myocarditis, and Marfan syndrome. (15837284)
2005
43
Plain radiography of the lumbosacral spine in Marfan syndrome. (14589463)
2002
44
Popliteal pterygium associated with neonatal Marfan syndrome: case report. (11446416)
2001
45
Allelic frequencies of FBN1 gene polymorphisms and genetic analysis of italian families with Marfan syndrome. (10686496)
2000
46
Acute mitral regurgitation due to chordal rupture in a patient with neonatal Marfan syndrome caused by a deletion in exon 29 of the FBN1 gene. (10441700)
1999
47
A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS). (10694921)
1998
48
Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders. (8541880)
1995
49
Fibrillin abnormalities and prognosis in Marfan syndrome and related disorders. (8533811)
1995
50
Anterior sacral meningocele and Marfan syndrome: a review. (8470436)
1993

Variations for Marfan Syndrome

About this section

UniProtKB/Swiss-Prot genetic disease variations for Marfan Syndrome:

67 (show all 226)
id Symbol AA change Variation ID SNP ID
1FBN1p.Cys111ArgVAR_002276
2FBN1p.Arg122CysVAR_002277rs137854467
3FBN1p.Cys129TyrVAR_002278
4FBN1p.Cys166PheVAR_002279
5FBN1p.Cys166SerVAR_002280
6FBN1p.Trp217GlyVAR_002281
7FBN1p.Cys476GlyVAR_002282
8FBN1p.Asp490TyrVAR_002283
9FBN1p.Arg545CysVAR_002284
10FBN1p.Asn548IleVAR_002285rs137854462
11FBN1p.Cys587TyrVAR_002286
12FBN1p.Arg627CysVAR_002287
13FBN1p.Cys661ArgVAR_002288
14FBN1p.Ala705ThrVAR_002289
15FBN1p.Cys711TyrVAR_002290
16FBN1p.Asp723AlaVAR_002291rs137854463
17FBN1p.Tyr746CysVAR_002292
18FBN1p.Cys750GlyVAR_002293
19FBN1p.Cys862ArgVAR_002294
20FBN1p.Cys926ArgVAR_002295
21FBN1p.Val984IleVAR_002296
22FBN1p.Cys996ArgVAR_002297rs140592
23FBN1p.Gly1013ArgVAR_002298rs140593
24FBN1p.Lys1023AsnVAR_002299
25FBN1p.Lys1043ArgVAR_002300rs137854472
26FBN1p.Ile1048ThrVAR_002301
27FBN1p.Cys1053ArgVAR_002303
28FBN1p.Cys1055GlyVAR_002304
29FBN1p.Asp1072GlyVAR_002306
30FBN1p.Glu1073LysVAR_002307rs137854478
31FBN1p.Cys1074ArgVAR_002308rs137854465
32FBN1p.Cys1086TrpVAR_002309
33FBN1p.Cys1117GlyVAR_002310
34FBN1p.Cys1117TyrVAR_002311rs137854470
35FBN1p.Gly1127SerVAR_002312rs137854468
36FBN1p.Asn1131TyrVAR_002313rs137854473
37FBN1p.Arg1137ProVAR_002314rs137854456
38FBN1p.Cys1153TyrVAR_002316rs140599
39FBN1p.Asp1155AsnVAR_002317
40FBN1p.Arg1170HisVAR_002318rs137854475
41FBN1p.Cys1171TrpVAR_002319
42FBN1p.Asn1173LysVAR_002320
43FBN1p.Cys1223TyrVAR_002321rs137854469
44FBN1p.Cys1242TyrVAR_002322rs137854471
45FBN1p.Cys1249SerVAR_002323rs137854458
46FBN1p.Asn1382SerVAR_002324
47FBN1p.Asp1404TyrVAR_002325
48FBN1p.Cys1513ArgVAR_002326
49FBN1p.Cys1589PheVAR_002327
50FBN1p.Cys1610GlyVAR_002328
51FBN1p.Cys1663ArgVAR_002329rs137854459
52FBN1p.Pro1837SerVAR_002330
53FBN1p.Asn1893LysVAR_002331
54FBN1p.Cys1928ArgVAR_002332
55FBN1p.Cys2099TrpVAR_002333
56FBN1p.Cys2111TyrVAR_002334
57FBN1p.Asp2127GluVAR_002335
58FBN1p.Asn2144SerVAR_002336rs137854461
59FBN1p.Cys2151TrpVAR_002337
60FBN1p.Cys2221SerVAR_002338rs137854460
61FBN1p.Cys2258ArgVAR_002339
62FBN1p.Arg2282TrpVAR_002340
63FBN1p.Cys2307SerVAR_002341rs137854457
64FBN1p.Cys2489ArgVAR_002343
65FBN1p.Cys2511ArgVAR_002344
66FBN1p.His2623ProVAR_002345
67FBN1p.Gly2627ArgVAR_002346
68FBN1p.Arg2680CysVAR_002347
69FBN1p.Arg2726TrpVAR_002348rs61746008
70FBN1p.Cys504PheVAR_010776
71FBN1p.Cys1129TyrVAR_010777rs137854482
72FBN1p.Tyr1261CysVAR_010778
73FBN1p.Cys1833SerVAR_010779
74FBN1p.Cys2142TyrVAR_010780
75FBN1p.Arg62CysVAR_017967rs25403
76FBN1p.Cys89PheVAR_017968rs112660651
77FBN1p.Arg114CysVAR_017969
78FBN1p.Cys154SerVAR_017971
79FBN1p.Arg240CysVAR_017972rs137854480
80FBN1p.Trp366CysVAR_017973
81FBN1p.Gly560SerVAR_017974
82FBN1p.Cys570TyrVAR_017975
83FBN1p.Gly592AspVAR_017976
84FBN1p.Cys596TyrVAR_017977
85FBN1p.Cys598TrpVAR_017978
86FBN1p.Cys652SerVAR_017979
87FBN1p.Asp654AsnVAR_017980
88FBN1p.Ser681TyrVAR_017982
89FBN1p.Cys683ArgVAR_017983
90FBN1p.Cys685TrpVAR_017984rs140603
91FBN1p.Asp723ValVAR_017985
92FBN1p.Cys734PheVAR_017986
93FBN1p.Cys748TyrVAR_017987
94FBN1p.Cys776GlyVAR_017988
95FBN1p.Cys776TyrVAR_017989
96FBN1p.Cys781ArgVAR_017990
97FBN1p.Cys816SerVAR_017991
98FBN1p.Cys890ArgVAR_017992
99FBN1p.Cys908ArgVAR_017993
100FBN1p.Glu913GlyVAR_017994
101FBN1p.Cys921GlyVAR_017995
102FBN1p.Gly985ArgVAR_017996
103FBN1p.Cys1044TyrVAR_017997
104FBN1p.Cys1055TrpVAR_017998
105FBN1p.Cys1055TyrVAR_017999
106FBN1p.Tyr1101CysVAR_018000
107FBN1p.Glu1200GlyVAR_018002
108FBN1p.Glu1325GlnVAR_018003
109FBN1p.Ala1337ProVAR_018004
110FBN1p.Cys1339TyrVAR_018005
111FBN1p.Glu1366LysVAR_018006
112FBN1p.Cys1374SerVAR_018007
113FBN1p.Cys1389ArgVAR_018008
114FBN1p.Pro1424AlaVAR_018010
115FBN1p.Cys1429SerVAR_018011
116FBN1p.Cys1564TyrVAR_018013
117FBN1p.Cys1770PheVAR_018015
118FBN1p.Arg1790ProVAR_018016
119FBN1p.Cys1791TyrVAR_018017
120FBN1p.Cys1793TrpVAR_018018
121FBN1p.Gly1796GluVAR_018019
122FBN1p.Cys1806SerVAR_018020
123FBN1p.Cys1835TyrVAR_018021rs111929350
124FBN1p.Ile1909ThrVAR_018022
125FBN1p.Arg1915SerVAR_018023
126FBN1p.Cys1971TyrVAR_018025
127FBN1p.Cys1977TyrVAR_018026
128FBN1p.Cys1998TyrVAR_018027
129FBN1p.Cys2111ArgVAR_018029rs363815
130FBN1p.Cys2221GlyVAR_018031
131FBN1p.Asn2223HisVAR_018032
132FBN1p.Ile2269ThrVAR_018033
133FBN1p.Arg2335TrpVAR_018034
134FBN1p.Cys2406TyrVAR_018036
135FBN1p.Cys2442TrpVAR_018037
136FBN1p.Tyr2474CysVAR_018038
137FBN1p.Cys2581PheVAR_018039
138FBN1p.Ile2585ThrVAR_018040
139FBN1p.Gly2618ArgVAR_018041rs141133182
140FBN1p.Asn2624LysVAR_018042
141FBN1p.Cys2652GlyVAR_018043
142FBN1p.Gly2668CysVAR_018044
143FBN1p.Gly985GluVAR_018319rs137854477
144FBN1p.Cys1265ArgVAR_018320rs137854474
145FBN1p.Tyr20CysVAR_023859
146FBN1p.Cys123TyrVAR_023860
147FBN1p.Cys177ArgVAR_023861rs363853
148FBN1p.Cys224ArgVAR_023862
149FBN1p.Arg439GlyVAR_023863
150FBN1p.Cys541TyrVAR_023865
151FBN1p.Cys628LysVAR_023866
152FBN1p.Tyr635CysVAR_023868
153FBN1p.Arg636IleVAR_023869
154FBN1p.Cys781TyrVAR_023870
155FBN1p.Cys832TyrVAR_023871
156FBN1p.Cys890GlyVAR_023872
157FBN1p.Gly1058AspVAR_023873
158FBN1p.Asp1113ValVAR_023874
159FBN1p.Cys1153SerVAR_023875
160FBN1p.Tyr1219CysVAR_023877
161FBN1p.Tyr1261AspVAR_023878
162FBN1p.Cys1278SerVAR_023879
163FBN1p.Cys1284GlyVAR_023880
164FBN1p.Cys1333SerVAR_023881
165FBN1p.Cys1402ArgVAR_023882
166FBN1p.Pro1424SerVAR_023883
167FBN1p.Gly1475GluVAR_023884
168FBN1p.Gly1475SerVAR_023885
169FBN1p.Cys1564PheVAR_023886
170FBN1p.Met1576ThrVAR_023887
171FBN1p.Cys1631GlyVAR_023888
172FBN1p.Cys1663TyrVAR_023889
173FBN1p.Cys1791ArgVAR_023890
174FBN1p.Cys1806TyrVAR_023891
175FBN1p.Cys1876TyrVAR_023892rs112728248
176FBN1p.Thr1887IleVAR_023893
177FBN1p.Cys1895ArgVAR_023894
178FBN1p.Cys1900TyrVAR_023895
179FBN1p.Cys1928GlyVAR_023896
180FBN1p.Cys1928TyrVAR_023897
181FBN1p.Cys2038TyrVAR_023898rs363804
182FBN1p.Cys2085ArgVAR_023899
183FBN1p.Ala2160ProVAR_023900
184FBN1p.Cys2221PheVAR_023901
185FBN1p.Cys2251ArgVAR_023902rs112836174
186FBN1p.Ala2385ThrVAR_023903
187FBN1p.Cys2500ArgVAR_023904
188FBN1p.Cys2500TyrVAR_023905
189FBN1p.Cys2535TrpVAR_023906rs113544411
190FBN1p.Gly2536ArgVAR_023907
191FBN1p.Glu2570LysVAR_023908
192FBN1p.Cys2571ArgVAR_023909
193FBN1p.Cys2592SerVAR_023910
194FBN1p.Cys2605ArgVAR_023911
195FBN1p.Cys2605TyrVAR_023912
196FBN1p.Tyr2629CysVAR_023914
197FBN1p.Cys2663SerVAR_023915
198FBN1p.Cys1068GlyVAR_064503
199FBN1p.Cys80GlyVAR_065981
200FBN1p.Cys499TyrVAR_065982
201FBN1p.Cys611ArgVAR_065983
202FBN1p.Cys617GlyVAR_065984
203FBN1p.Cys685TyrVAR_065985
204FBN1p.Cys790TyrVAR_065986
205FBN1p.Cys811TyrVAR_065987
206FBN1p.Cys853SerVAR_065988
207FBN1p.Cys926TyrVAR_065989
208FBN1p.Pro1090SerVAR_065990
209FBN1p.Gly1185AspVAR_065991
210FBN1p.Cys1284TyrVAR_065992
211FBN1p.Cys1350PheVAR_065993
212FBN1p.Thr1401AlaVAR_065994
213FBN1p.Cys1431TrpVAR_065995rs112375043
214FBN1p.Cys1431TyrVAR_065996
215FBN1p.Asp1487AlaVAR_065998
216FBN1p.Asn1489LysVAR_065999
217FBN1p.Gly1838CysVAR_066000
218FBN1p.Cys1934SerVAR_066001
219FBN1p.Glu1976GlyVAR_066002
220FBN1p.Cys1984ArgVAR_066003
221FBN1p.Asp2166AsnVAR_066004
222FBN1p.Ile2185ThrVAR_066005
223FBN1p.Asp2247GlyVAR_066006
224FBN1p.Cys2318ArgVAR_066007rs111588631
225FBN1p.Cys2442SerVAR_066008
226FBN1p.Cys2646ArgVAR_066010

Clinvar genetic disease variations for Marfan Syndrome:

5 (show all 245)
id Gene Variation Type Significance SNP ID Assembly Location
1LTBP2NM_000428.2(LTBP2): c.1642C> T (p.Arg548Ter)single nucleotide variantPathogenicrs137854855GRCh37Chr 14, 75017811: 75017811
2FBN1NM_000138.4(FBN1): c.385T> G (p.Cys129Gly)single nucleotide variantPathogenicrs199474693GRCh38Chr 15, 48600196: 48600196
3FBN1NM_000138.4(FBN1): c.1496G> A (p.Cys499Tyr)single nucleotide variantPathogenicrs587782944GRCh38Chr 15, 48513641: 48513641
4FBN1NM_000138.4(FBN1): c.4405C> T (p.Arg1469Cys)single nucleotide variantLikely pathogenicrs587782946GRCh38Chr 15, 48470688: 48470688
5FBN1NM_000138.4(FBN1): c.5783G> T (p.Cys1928Phe)single nucleotide variantPathogenicrs587782947GRCh38Chr 15, 48446711: 48446711
6FBN1NM_000138.4(FBN1): c.8521G> T (p.Glu2841Ter)single nucleotide variantPathogenicrs587782948GRCh38Chr 15, 48411085: 48411085
7FBN1NM_000138.4(FBN1): c.1027G> A (p.Gly343Arg)single nucleotide variantLikely pathogenicrs146726731GRCh37Chr 15, 48812976: 48812976
8FBN1NM_000138.4(FBN1): c.1156_1167delAACAAGCTGTGC (p.Asn386_Cys389del)deletionPathogenicrs672601352GRCh38Chr 15, 48516343: 48516354
9FBN1NC_000015.10: g.(?_48411326)_(48468521_?)deldeletionPathogenicGRCh37Chr 15, 48703523: 48760718
10FBN1NM_000138.4(FBN1): c.(?_5475)_(5542_?)del (p.(?))deletionPathogenicGRCh37Chr 15, 48744762: 48744829
11FBN1NM_000138.4(FBN1): c.8080C> T (p.Arg2694Ter)single nucleotide variantPathogenicrs200309328GRCh37Chr 15, 48704912: 48704912
12FBN1NM_000138.4(FBN1): c.7754T> C (p.Ile2585Thr)single nucleotide variantLikely pathogenic, Pathogenicrs727503054GRCh37Chr 15, 48712949: 48712949
13FBN1NM_000138.4(FBN1): c.4675_4718del44 (p.Lys1559Leufs)deletionLikely pathogenicrs727503056GRCh37Chr 15, 48760164: 48760207
14FBN1NM_000138.4(FBN1): c.1879C> T (p.Arg627Cys)single nucleotide variantPathogenicrs727503057GRCh37Chr 15, 48797303: 48797303
15FBN1NM_000138.4(FBN1): c.164+2T> Csingle nucleotide variantLikely pathogenicrs727503058GRCh37Chr 15, 48936801: 48936801
16FBN1FBN1, 366-BP DELdeletionPathogenic
17FBN1NM_000138.4(FBN1): c.8268G> A (p.Trp2756Ter)single nucleotide variantPathogenicrs267606796GRCh37Chr 15, 48703535: 48703535
18FBN1NM_000138.4(FBN1): c.3746G> C (p.Cys1249Ser)single nucleotide variantPathogenicrs137854458GRCh37Chr 15, 48776107: 48776107
19FBN1NM_000138.4(FBN1): c.4987T> C (p.Cys1663Arg)single nucleotide variantPathogenicrs137854459GRCh37Chr 15, 48756174: 48756174
20FBN1NM_000138.4(FBN1): c.6662G> C (p.Cys2221Ser)single nucleotide variantPathogenicrs137854460GRCh37Chr 15, 48725140: 48725140
21FBN1NM_000138.4(FBN1): c.3350G> A (p.Cys1117Tyr)single nucleotide variantPathogenicrs137854470GRCh37Chr 15, 48779622: 48779622
22FBN1NM_000138.4(FBN1): c.3725G> A (p.Cys1242Tyr)single nucleotide variantPathogenicrs137854471GRCh37Chr 15, 48776128: 48776128
23FBN1NM_000138.4(FBN1): c.6339T> G (p.Tyr2113Ter)single nucleotide variantPathogenicrs267606797GRCh37Chr 15, 48729559: 48729559
24FBN1NM_000138.4(FBN1): c.6431A> G (p.Asn2144Ser)single nucleotide variantPathogenicrs137854461GRCh37Chr 15, 48729223: 48729223
25FBN1NM_000138.4(FBN1): c.1643A> T (p.Asn548Ile)single nucleotide variantPathogenicrs137854462GRCh37Chr 15, 48802312: 48802312
26FBN1NM_000138.4(FBN1): c.2168A> C (p.Asp723Ala)single nucleotide variantPathogenicrs137854463GRCh37Chr 15, 48789588: 48789588
27FBN1FBN1, 83-BP DELdeletionPathogenic
28FBN1FBN1, IVS54DS, G-C, +1, 123-BP DELdeletionPathogenic
29FBN1NM_000138.4(FBN1): c.8326C> T (p.Arg2776Ter)single nucleotide variantLikely pathogenic, Pathogenicrs137854466GRCh37Chr 15, 48703477: 48703477
30FBN1NM_000138.4(FBN1): c.364C> T (p.Arg122Cys)single nucleotide variantPathogenicrs137854467GRCh37Chr 15, 48892414: 48892414
31FBN1NM_000138.4(FBN1): c.3379G> A (p.Gly1127Ser)single nucleotide variantPathogenicrs137854468GRCh37Chr 15, 48779593: 48779593
32FBN1NM_000138.4(FBN1): c.3668G> A (p.Cys1223Tyr)single nucleotide variantPathogenicrs137854469GRCh37Chr 15, 48777615: 48777615
33FBN1NM_000138.4(FBN1): c.8176C> T (p.Arg2726Trp)single nucleotide variantLikely pathogenic, Pathogenicrs61746008GRCh37Chr 15, 48704816: 48704816
34FBN1FBN1, 1-BP DEL, 3192AdeletionPathogenic
35FBN1NM_000138.4(FBN1): c.6354C> T (p.Ile2118=)single nucleotide variantLikely pathogenic, Pathogenicrs112989722GRCh37Chr 15, 48729544: 48729544
36FBN1NM_000138.4(FBN1): c.3793T> C (p.Cys1265Arg)single nucleotide variantPathogenicrs137854474GRCh37Chr 15, 48776060: 48776060
37FBN1NM_000138.4(FBN1): c.3509G> A (p.Arg1170His)single nucleotide variantPathogenicrs137854475GRCh37Chr 15, 48779352: 48779352
38FBN1NM_000138.4(FBN1): c.1585C> T (p.Arg529Ter)single nucleotide variantPathogenicrs137854476GRCh37Chr 15, 48805749: 48805749
39FBN1FBN1, IVS2DS, G-A, +1single nucleotide variantPathogenic
40FBN1NM_000138.4(FBN1): c.3037G> C (p.Gly1013Arg)single nucleotide variantPathogenicrs140593GRCh37Chr 15, 48782093: 48782093
41FBN1FBN1, 33-BP INS, IVS46, G-A, +1insertionPathogenic
42FBN1FBN1, IVS46+5G-Asingle nucleotide variantPathogenic
43FBN1NM_000138.4(FBN1): c.2261A> G (p.Tyr754Cys)single nucleotide variantPathogenicrs137854479GRCh37Chr 15, 48789495: 48789495
44FBN1NM_000138.4(FBN1): c.718C> T (p.Arg240Cys)single nucleotide variantPathogenicrs137854480GRCh37Chr 15, 48829826: 48829826
45FBN1NM_000138.4(FBN1): c.3386G> A (p.Cys1129Tyr)single nucleotide variantPathogenicrs137854482GRCh37Chr 15, 48779586: 48779586
46FBN1NM_000138.4(FBN1): c.3662G> A (p.Cys1221Tyr)single nucleotide variantPathogenicrs137854483GRCh37Chr 15, 48777621: 48777621
47FBN1FBN1, 302.5-KB DELdeletionPathogenic
48FBN1FBN1, EX13-49DELdeletionPathogenic
49FBN1NM_000138.4(FBN1): c.3037G> A (p.Gly1013Arg)single nucleotide variantPathogenicrs140593GRCh37Chr 15, 48782093: 48782093
50FBN1NM_000138.4(FBN1): c.5888delA (p.Glu1963Glyfs)deletionLikely pathogenicrs727504315GRCh37Chr 15, 48737602: 48737602
51FBN1NM_000138.4(FBN1): c.5066delA (p.Asp1689Valfs)deletionLikely pathogenicrs727504347GRCh37Chr 15, 48755437: 48755437
52FBN1NM_000138.4(FBN1): c.6886C> T (p.Gln2296Ter)single nucleotide variantLikely pathogenicrs727504410GRCh37Chr 15, 48720654: 48720654
53FBN1NM_000138.4(FBN1): c.3546C> A (p.Cys1182Ter)single nucleotide variantPathogenicrs727504411GRCh37Chr 15, 48779315: 48779315
54FBN1NM_000138.4(FBN1): c.8473_8475delGGA (p.Gly2825del)deletionPathogenicrs727504454GRCh37Chr 15, 48703328: 48703330
55FBN1NM_000138.4(FBN1): c.8265_8266delTTinsAGGA (p.Ser2755Argfs)indelPathogenicrs727504651GRCh37Chr 15, 48703537: 48703538
56FBN1NM_000138.4(FBN1): c.3589G> C (p.Asp1197His)single nucleotide variantLikely pathogenicrs397515793GRCh37Chr 15, 48779272: 48779272
57FBN1NM_000138.4(FBN1): c.1335dupG (p.Pro446Alafs)duplicationPathogenicrs730880356GRCh37Chr 15, 48807717: 48807717
58FBN1NM_000138.4(FBN1): c.3373C> T (p.Arg1125Ter)single nucleotide variantPathogenicrs727505006GRCh37Chr 15, 48779599: 48779599
59FBN1NM_000138.4(FBN1): c.2942G> C (p.Cys981Ser)single nucleotide variantLikely pathogenicrs727505110GRCh37Chr 15, 48782188: 48782188
60FBN1NM_000138.4(FBN1): c.660delC (p.Cys221Valfs)deletionPathogenicrs727505269GRCh37Chr 15, 48829884: 48829884
61FBN1NM_000138.4(FBN1): c.6354C> G (p.Ile2118Met)single nucleotide variantLikely pathogenicrs112989722GRCh37Chr 15, 48729544: 48729544
62FBN1NM_000138.4(FBN1): c.1A> G (p.Met1Val)single nucleotide variantLikely pathogenicrs730880097GRCh38Chr 15, 48644769: 48644769
63FBN1NM_000138.4(FBN1): c.281G> T (p.Cys94Phe)single nucleotide variantLikely pathogenicrs730880098GRCh38Chr 15, 48610793: 48610793
64FBN1NM_000138.4(FBN1): c.1285C> T (p.Arg429Ter)single nucleotide variantPathogenicrs112645512GRCh37Chr 15, 48808422: 48808422
65FBN1NM_000138.4(FBN1): c.1633C> T (p.Arg545Cys)single nucleotide variantPathogenicrs730880099GRCh38Chr 15, 48510125: 48510125
66FBN1NM_000138.4(FBN1): c.3131G> A (p.Cys1044Tyr)single nucleotide variantLikely pathogenicrs730880100GRCh37Chr 15, 48780642: 48780642
67FBN1NM_000138.4(FBN1): c.4453T> C (p.Cys1485Arg)single nucleotide variantLikely pathogenicrs730880101GRCh38Chr 15, 48470640: 48470640
68FBN1NM_000138.4(FBN1): c.5280T> A (p.Tyr1760Ter)single nucleotide variantLikely pathogenicrs730880103GRCh38Chr 15, 48460262: 48460262
69FBN1NM_000138.4(FBN1): c.5861T> G (p.Phe1954Cys)single nucleotide variantLikely pathogenicrs730880104GRCh38Chr 15, 48445432: 48445432
70FBN1NM_000138.4(FBN1): c.2113+2T> Csingle nucleotide variantLikely pathogenicrs730880105GRCh38Chr 15, 48503785: 48503785
71FBN1NM_000138.4(FBN1): c.4210+1G> Asingle nucleotide variantLikely pathogenicrs730880106GRCh38Chr 15, 48474254: 48474254
72FBN1NM_000138.4(FBN1): c.6739+2T> Asingle nucleotide variantLikely pathogenicrs730880107GRCh37Chr 15, 48725061: 48725061
73FBN1NM_000138.4(FBN1): c.320_321delTA (p.Ile107Serfs)deletionLikely pathogenicrs730880108GRCh37Chr 15, 48902950: 48902951
74FBN1NM_000138.4(FBN1): c.4337-1_4337delinsTAindelLikely pathogenicGRCh38Chr 15, 48470756: 48470757
75FBN1NM_000138.4(FBN1): c.1211delC (p.Pro404Hisfs)deletionLikely pathogenicrs112289537GRCh37Chr 15, 48808496: 48808496
76FBN1NM_000138.4(FBN1): c.1634G> A (p.Arg545His)single nucleotide variantLikely pathogenicrs193922179GRCh37Chr 15, 48802321: 48802321
77FBN1NM_000138.4(FBN1): c.1669_1677dupTGTAATGCG (p.Ala559_Gly560insCysAsnAla)duplicationLikely pathogenicrs193922181GRCh37Chr 15, 48802278: 48802286
78FBN1NM_000138.4(FBN1): c.1709delG (p.Cys570Leufs)deletionLikely pathogenicrs193922182GRCh37Chr 15, 48802246: 48802246
79FBN1NM_000138.4(FBN1): c.1710T> A (p.Cys570Ter)single nucleotide variantLikely pathogenicrs193922183GRCh37Chr 15, 48802245: 48802245
80FBN1NM_000138.4(FBN1): c.1948C> T (p.Arg650Cys)single nucleotide variantLikely pathogenicrs193922185GRCh37Chr 15, 48797234: 48797234
81FBN1NM_000138.4(FBN1): c.2055C> G (p.Cys685Trp)single nucleotide variantLikely pathogenic, Pathogenicrs140603GRCh37Chr 15, 48796042: 48796042
82FBN1NM_000138.4(FBN1): c.2057C> A (p.Ala686Asp)single nucleotide variantLikely pathogenicrs193922186GRCh37Chr 15, 48796040: 48796040
83FBN1NM_000138.4(FBN1): c.2186delT (p.Leu729Glnfs)deletionLikely pathogenicrs193922187GRCh37Chr 15, 48789570: 48789570
84FBN1NM_000138.4(FBN1): c.2369G> C (p.Cys790Ser)single nucleotide variantLikely pathogenicrs193922188GRCh37Chr 15, 48788347: 48788347
85FBN1NM_000138.4(FBN1): c.2433C> A (p.Cys811Ter)single nucleotide variantLikely pathogenicrs193921256GRCh37Chr 15, 48787772: 48787772
86FBN1NM_000138.4(FBN1): c.2479T> C (p.Ser827Pro)single nucleotide variantLikely pathogenicrs193922189GRCh37Chr 15, 48787726: 48787726
87FBN1NM_000138.4(FBN1): c.2508T> A (p.Ser836Arg)single nucleotide variantLikely pathogenicrs193922190GRCh37Chr 15, 48787697: 48787697
88FBN1NM_000138.4(FBN1): c.2542A> C (p.Thr848Pro)single nucleotide variantLikely pathogenicrs193922191GRCh37Chr 15, 48787455: 48787455
89FBN1NM_000138.4(FBN1): c.266G> C (p.Cys89Ser)single nucleotide variantLikely pathogenicrs112660651GRCh37Chr 15, 48903005: 48903005
90FBN1NM_000138.4(FBN1): c.2677G> C (p.Asp893His)single nucleotide variantLikely pathogenicrs193922193GRCh37Chr 15, 48787320: 48787320
91FBN1NM_000138.4(FBN1): c.2682delC (p.Ile895Tyrfs)deletionLikely pathogenicrs193922194GRCh37Chr 15, 48786447: 48786447
92FBN1NM_000138.4(FBN1): c.2855-1G> Csingle nucleotide variantLikely pathogenicrs112202622GRCh37Chr 15, 48782276: 48782276
93FBN1NM_000138.4(FBN1): c.3026C> G (p.Pro1009Arg)single nucleotide variantLikely pathogenicrs148076256GRCh37Chr 15, 48782104: 48782104
94FBN1NM_000138.4(FBN1): c.3140_3141delCC (p.Thr1047Asnfs)deletionLikely pathogenicrs193922197GRCh37Chr 15, 48780632: 48780633
95FBN1NM_000138.4(FBN1): c.3193delG (p.Glu1065Lysfs)deletionLikely pathogenicrs193922198GRCh37Chr 15, 48780580: 48780580
96FBN1NM_000138.4(FBN1): c.3478G> T (p.Glu1160Ter)single nucleotide variantLikely pathogenicrs193922199GRCh37Chr 15, 48779383: 48779383
97FBN1NM_000138.4(FBN1): c.3560A> G (p.His1187Arg)single nucleotide variantLikely pathogenicrs193922200GRCh37Chr 15, 48779301: 48779301
98FBN1NM_000138.4(FBN1): c.4165T> G (p.Cys1389Gly)single nucleotide variantLikely pathogenicrs193922203GRCh37Chr 15, 48766497: 48766497
99FBN1NM_000138.4(FBN1): c.4460-8G> Asingle nucleotide variantLikely pathogenicrs193922204GRCh37Chr 15, 48760739: 48760739
100FBN1NM_000138.4(FBN1): c.4467T> A (p.Asn1489Lys)single nucleotide variantLikely pathogenicrs193922205GRCh37Chr 15, 48760724: 48760724
101FBN1NM_000138.4(FBN1): c.454A> T (p.Ser152Cys)single nucleotide variantLikely pathogenicrs193922206GRCh37Chr 15, 48888564: 48888564
102FBN1NM_000138.4(FBN1): c.4588C> T (p.Arg1530Cys)single nucleotide variantPathogenicrs111401431GRCh37Chr 15, 48760294: 48760294
103FBN1NM_000138.4(FBN1): c.4684T> A (p.Cys1562Ser)single nucleotide variantLikely pathogenicrs193922207GRCh37Chr 15, 48760198: 48760198
104FBN1NM_000138.4(FBN1): c.4786C> T (p.Arg1596Ter)single nucleotide variantPathogenicrs113871094GRCh37Chr 15, 48758017: 48758017
105FBN1NM_000138.4(FBN1): c.484G> A (p.Ala162Thr)single nucleotide variantLikely pathogenicrs193922210GRCh37Chr 15, 48888534: 48888534
106FBN1NM_000138.4(FBN1): c.510C> G (p.Tyr170Ter)single nucleotide variantLikely pathogenicrs111671429GRCh37Chr 15, 48888508: 48888508
107FBN1NM_000138.4(FBN1): c.5521_5528delTTCACCTC (p.Phe1841Hisfs)deletionLikely pathogenicrs193922212GRCh37Chr 15, 48744776: 48744783
108FBN1NM_000138.4(FBN1): c.5552A> G (p.Asn1851Ser)single nucleotide variantLikely pathogenicrs193922214GRCh37Chr 15, 48741084: 48741084
109FBN1NM_000138.4(FBN1): c.556T> C (p.Cys186Arg)single nucleotide variantLikely pathogenicrs193922215GRCh37Chr 15, 48829988: 48829988
110FBN1NM_000138.4(FBN1): c.5671G> C (p.Asp1891His)single nucleotide variantLikely pathogenicrs193922216GRCh37Chr 15, 48740965: 48740965
111FBN1NM_000138.4(FBN1): c.56C> T (p.Ser19Phe)single nucleotide variantLikely pathogenicrs193922218GRCh37Chr 15, 48936911: 48936911
112FBN1NM_000138.4(FBN1): c.6006_6012dupTGGATAC (p.Ser2005Trpfs)duplicationLikely pathogenicrs193922220GRCh37Chr 15, 48736763: 48736769
113FBN1NM_000138.4(FBN1): c.6385G> T (p.Asp2129Tyr)single nucleotide variantLikely pathogenicrs193922223GRCh37Chr 15, 48729269: 48729269
114FBN1NM_000138.4(FBN1): c.649T> G (p.Trp217Gly)single nucleotide variantLikely pathogenicrs193922224GRCh37Chr 15, 48829895: 48829895
115FBN1NM_000138.4(FBN1): c.6553_6556dupATTG (p.Gly2186Aspfs)duplicationLikely pathogenicrs193922225GRCh37Chr 15, 48726851: 48726854
116FBN1NM_000138.4(FBN1): c.6700G> A (p.Val2234Met)single nucleotide variantLikely pathogenicrs112084407GRCh37Chr 15, 48725102: 48725102
117FBN1NM_000138.4(FBN1): c.6704delG (p.Gly2235Aspfs)deletionLikely pathogenicrs193922226GRCh37Chr 15, 48725098: 48725098
118FBN1NM_000138.4(FBN1): c.6793_6800dupTGCAAGAA (p.Leu2268Alafs)duplicationLikely pathogenicrs193922227GRCh37Chr 15, 48722939: 48722946
119FBN1NM_000138.4(FBN1): c.6806T> C (p.Ile2269Thr)single nucleotide variantLikely pathogenicrs193922228GRCh37Chr 15, 48722933: 48722933
120FBN1NM_000138.4(FBN1): c.6970G> A (p.Ala2324Thr)single nucleotide variantLikely pathogenicrs148831709GRCh37Chr 15, 48720570: 48720570
121FBN1NM_000138.4(FBN1): c.7072G> A (p.Val2358Ile)single nucleotide variantLikely pathogenicrs140537304GRCh37Chr 15, 48719896: 48719896
122FBN1NM_000138.4(FBN1): c.7229A> C (p.His2410Pro)single nucleotide variantLikely pathogenicrs193922230GRCh37Chr 15, 48718037: 48718037
123FBN1NM_000138.4(FBN1): c.7412C> G (p.Pro2471Arg)single nucleotide variantLikely pathogenicrs193922233GRCh37Chr 15, 48717607: 48717607
124FBN1NM_000138.4(FBN1): c.7666T> G (p.Phe2556Val)single nucleotide variantLikely pathogenicrs193922234GRCh37Chr 15, 48713788: 48713788
125FBN1NM_000138.4(FBN1): c.7678delC (p.Gln2560Argfs)deletionLikely pathogenicrs193922235GRCh37Chr 15, 48713776: 48713776
126FBN1NM_000138.4(FBN1): c.7726C> T (p.Arg2576Cys)single nucleotide variantLikely pathogenic, Pathogenicrs147195031GRCh37Chr 15, 48712977: 48712977
127FBN1NM_000138.4(FBN1): c.7806G> A (p.Trp2602Ter)single nucleotide variantLikely pathogenic, Pathogenicrs193922236GRCh37Chr 15, 48712897: 48712897
128FBN1NM_000138.4(FBN1): c.7879G> A (p.Gly2627Arg)single nucleotide variantLikely pathogenicrs193922239GRCh37Chr 15, 48707905: 48707905
129FBN1NM_000138.4(FBN1): c.7898G> C (p.Cys2633Ser)single nucleotide variantLikely pathogenicrs193922240GRCh37Chr 15, 48707886: 48707886
130FBN1NM_000138.4(FBN1): c.7999G> A (p.Glu2667Lys)single nucleotide variantLikely pathogenicrs149062442GRCh37Chr 15, 48707785: 48707785
131FBN1NM_000138.4(FBN1): c.8203delG (p.Glu2735Lysfs)deletionLikely pathogenicrs193922241GRCh37Chr 15, 48704789: 48704789
132FBN1NM_000138.4(FBN1): c.8219A> G (p.Asn2740Ser)single nucleotide variantLikely pathogenicrs193922242GRCh37Chr 15, 48704773: 48704773
133FBN1NM_000138.4(FBN1): c.83A> G (p.Asn28Ser)single nucleotide variantLikely pathogenicrs193922245GRCh37Chr 15, 48936884: 48936884
134FBN1NM_000138.4(FBN1): c.8412_8417delTAAAAT (p.Lys2805_Ile2806del)deletionLikely pathogenicrs193922246GRCh37Chr 15, 48703386: 48703391
135FBN1NM_000138.4(FBN1): c.2920C> T (p.Arg974Cys)single nucleotide variantPathogenicrs397514558GRCh37Chr 15, 48782210: 48782210
136FBN1NM_000138.4(FBN1): c.8155_8156delAA (p.Lys2719Aspfs)deletionPathogenicrs398122831GRCh37Chr 15, 48704836: 48704837
137FBN1NM_000138.4(FBN1): c.8156_8175del20 (p.Lys2719Thrfs)deletionPathogenicrs398122832GRCh37Chr 15, 48704817: 48704836
138FBN1NM_000138.4(FBN1): c.8226+1G> Tsingle nucleotide variantPathogenicrs398122833GRCh37Chr 15, 48704765: 48704765
139FBN1NM_000138.4(FBN1): c.4253_4259delGCCAGTG (p.Gly1418Alafs)deletionPathogenicrs398122934GRCh37Chr 15, 48764825: 48764831
140FBN1NM_000138.4(FBN1): c.1051C> T (p.Gln351Ter)single nucleotide variantPathogenicrs397515753GRCh37Chr 15, 48812952: 48812952
141FBN1NM_000138.4(FBN1): c.1192A> T (p.Arg398Ter)single nucleotide variantPathogenicrs397515754GRCh37Chr 15, 48808515: 48808515
142FBN1NM_000138.4(FBN1): c.1095C> A (p.Cys365Ter)single nucleotide variantLikely pathogenicrs397515755GRCh37Chr 15, 48812908: 48812908
143FBN1NM_000138.4(FBN1): c.1148-2A> Gsingle nucleotide variantPathogenicrs397515756GRCh37Chr 15, 48808561: 48808561
144FBN1NM_000138.4(FBN1): c.1468+5G> Asingle nucleotide variantPathogenicrs397515757GRCh37Chr 15, 48807579: 48807579
145FBN1NM_000138.4(FBN1): c.1546C> T (p.Arg516Ter)single nucleotide variantPathogenicrs113812345GRCh37Chr 15, 48805788: 48805788
146FBN1NM_000138.4(FBN1): c.1561_1562delAG (p.Ser521Hisfs)deletionLikely pathogenicrs397515758GRCh37Chr 15, 48805772: 48805773
147FBN1NM_000138.4(FBN1): c.1601G> A (p.Cys534Tyr)single nucleotide variantLikely pathogenicrs397515759GRCh37Chr 15, 48802354: 48802354
148FBN1NM_000138.4(FBN1): c.1837+1G> Tsingle nucleotide variantLikely pathogenicrs397515762GRCh37Chr 15, 48800778: 48800778
149FBN1NM_000138.4(FBN1): c.184C> T (p.Arg62Cys)single nucleotide variantPathogenicrs25403GRCh37Chr 15, 48905270: 48905270
150FBN1NM_000138.4(FBN1): c.185G> A (p.Arg62His)single nucleotide variantLikely pathogenicrs145942328GRCh37Chr 15, 48905269: 48905269
151FBN1NM_000138.4(FBN1): c.2242T> C (p.Cys748Arg)single nucleotide variantLikely pathogenicrs397515765GRCh37Chr 15, 48789514: 48789514
152FBN1NM_000138.4(FBN1): c.2341T> C (p.Cys781Arg)single nucleotide variantPathogenicrs397515766GRCh37Chr 15, 48788375: 48788375
153FBN1NM_000138.4(FBN1): c.239G> A (p.Cys80Tyr)single nucleotide variantLikely pathogenicrs397515767GRCh37Chr 15, 48905215: 48905215
154FBN1NM_000138.4(FBN1): c.2407A> T (p.Lys803Ter)single nucleotide variantPathogenicrs397515768GRCh37Chr 15, 48788309: 48788309
155FBN1NM_000138.4(FBN1): c.2412_2413delAT (p.Cys805Terfs)deletionPathogenicrs397515769GRCh37Chr 15, 48788303: 48788304
156FBN1NM_000138.4(FBN1): c.2447G> C (p.Cys816Ser)single nucleotide variantLikely pathogenicrs397515770GRCh37Chr 15, 48787758: 48787758
157FBN1NM_000138.4(FBN1): c.2448C> G (p.Cys816Trp)single nucleotide variantLikely pathogenicrs397515771GRCh37Chr 15, 48787757: 48787757
158FBN1NM_000138.4(FBN1): c.247+1G> Asingle nucleotide variantPathogenicrs25404GRCh37Chr 15, 48905206: 48905206
159FBN1NM_000138.4(FBN1): c.2488T> G (p.Cys830Gly)single nucleotide variantLikely pathogenicrs397515773GRCh37Chr 15, 48787717: 48787717
160FBN1NM_000138.4(FBN1): c.2489G> C (p.Cys830Ser)single nucleotide variantLikely pathogenicrs397515774GRCh37Chr 15, 48787716: 48787716
161FBN1NM_000138.4(FBN1): c.2495G> A (p.Cys832Tyr)single nucleotide variantLikely pathogenicrs397515775GRCh37Chr 15, 48787710: 48787710
162FBN1NM_000138.4(FBN1): c.2496T> G (p.Cys832Trp)single nucleotide variantLikely pathogenicrs397515776GRCh37Chr 15, 48787709: 48787709
163FBN1NM_000138.4(FBN1): c.268_269delGGinsC (p.Gly90Argfs)indelLikely pathogenicrs397515778GRCh37Chr 15, 48903002: 48903003
164FBN1NM_000138.4(FBN1): c.2691dupT (p.Lys898Terfs)duplicationLikely pathogenicrs397515779GRCh37Chr 15, 48786438: 48786438
165FBN1NM_000138.4(FBN1): c.2833delG (p.Ala945Profs)deletionLikely pathogenicrs397515781GRCh37Chr 15, 48784679: 48784679
166FBN1NM_000138.4(FBN1): c.2855-1G> Asingle nucleotide variantPathogenicrs112202622GRCh37Chr 15, 48782276: 48782276
167FBN1NM_000138.4(FBN1): c.2927G> A (p.Arg976His)single nucleotide variantLikely pathogenicrs140954477GRCh37Chr 15, 48782203: 48782203
168FBN1NM_000138.4(FBN1): c.299G> T (p.Cys100Phe)single nucleotide variantLikely pathogenicrs397515782GRCh37Chr 15, 48902972: 48902972
169FBN1NM_000138.4(FBN1): c.3012C> G (p.Tyr1004Ter)single nucleotide variantLikely pathogenicrs397515784GRCh37Chr 15, 48782118: 48782118
170FBN1NM_000138.4(FBN1): c.32_42delTGGGATTTACC (p.Leu11Argfs)deletionLikely pathogenicrs397515785GRCh37Chr 15, 48936925: 48936935
171FBN1NM_000138.4(FBN1): c.3164G> A (p.Cys1055Tyr)single nucleotide variantPathogenicrs397515786GRCh37Chr 15, 48780609: 48780609
172FBN1NM_000138.4(FBN1): c.3274delG (p.Asp1092Thrfs)deletionPathogenicrs397515788GRCh37Chr 15, 48780373: 48780373
173FBN1NM_000138.4(FBN1): c.3337+1G> Asingle nucleotide variantLikely pathogenicrs397515789GRCh37Chr 15, 48780309: 48780309
174FBN1NM_000138.4(FBN1): c.3392A> G (p.Asn1131Ser)single nucleotide variantLikely pathogenicrs397515790GRCh37Chr 15, 48779580: 48779580
175FBN1NM_000138.4(FBN1): c.3413G> T (p.Cys1138Phe)single nucleotide variantLikely pathogenicrs397515791GRCh37Chr 15, 48779559: 48779559
176FBN1NM_000138.4(FBN1): c.3463+1G> Tsingle nucleotide variantPathogenicrs397515792GRCh37Chr 15, 48779508: 48779508
177FBN1NM_000138.4(FBN1): c.368G> A (p.Cys123Tyr)single nucleotide variantPathogenicrs397515794GRCh37Chr 15, 48892410: 48892410
178FBN1NM_000138.4(FBN1): c.3848A> C (p.Glu1283Ala)single nucleotide variantLikely pathogenicrs397515796GRCh37Chr 15, 48773968: 48773968
179FBN1NM_000138.4(FBN1): c.3886T> C (p.Cys1296Arg)single nucleotide variantLikely pathogenicrs397515797GRCh37Chr 15, 48773930: 48773930
180FBN1NM_000138.4(FBN1): c.4001G> A (p.Gly1334Asp)single nucleotide variantLikely pathogenicrs191989961GRCh37Chr 15, 48766811: 48766811
181FBN1NM_000138.4(FBN1): c.4016G> C (p.Cys1339Ser)single nucleotide variantLikely pathogenicrs397515798GRCh37Chr 15, 48766796: 48766796
182FBN1NM_000138.4(FBN1): c.4048T> A (p.Cys1350Ser)single nucleotide variantLikely pathogenicrs397515799GRCh37Chr 15, 48766764: 48766764
183FBN1NM_000138.4(FBN1): c.4160A> G (p.Tyr1387Cys)single nucleotide variantLikely pathogenicrs397515801GRCh37Chr 15, 48766502: 48766502
184FBN1NM_000138.4(FBN1): c.4222T> C (p.Cys1408Arg)single nucleotide variantPathogenicrs397515802GRCh37Chr 15, 48764862: 48764862
185FBN1NM_000138.4(FBN1): c.4251_4259delTGGCCAGTG (p.Gly1418_Cys1420del)deletionLikely pathogenicrs397515803GRCh37Chr 15, 48764825: 48764833
186FBN1NM_000138.4(FBN1): c.4259G> A (p.Cys1420Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397515804GRCh37Chr 15, 48764825: 48764825
187FBN1NM_000138.4(FBN1): c.4270C> G (p.Pro1424Ala)single nucleotide variantPathogenicrs201273753GRCh37Chr 15, 48764814: 48764814
188FBN1NM_000138.4(FBN1): c.4367G> A (p.Cys1456Tyr)single nucleotide variantLikely pathogenicrs397515805GRCh37Chr 15, 48762923: 48762923
189FBN1NM_000138.4(FBN1): c.4364T> G (p.Ile1455Ser)single nucleotide variantLikely pathogenicrs397515807GRCh37Chr 15, 48762926: 48762926
190FBN1NM_000138.4(FBN1): c.4367G> C (p.Cys1456Ser)single nucleotide variantPathogenicrs397515805GRCh37Chr 15, 48762923: 48762923
191FBN1NM_000138.4(FBN1): c.4406G> C (p.Arg1469Pro)single nucleotide variantLikely pathogenicrs397515808GRCh37Chr 15, 48762884: 48762884
192FBN1NM_000138.4(FBN1): c.4505G> A (p.Cys1502Tyr)single nucleotide variantLikely pathogenicrs397515810GRCh37Chr 15, 48760686: 48760686
193FBN1NM_000138.4(FBN1): c.4531T> C (p.Cys1511Arg)single nucleotide variantLikely pathogenicrs397515811GRCh37Chr 15, 48760660: 48760660
194FBN1NM_000138.4(FBN1): c.4567C> T (p.Arg1523Ter)single nucleotide variantLikely pathogenicrs397515812GRCh37Chr 15, 48760624: 48760624
195FBN1NM_000138.4(FBN1): c.4615C> T (p.Arg1539Ter)single nucleotide variantPathogenicrs111231312GRCh37Chr 15, 48760267: 48760267
196FBN1NM_000138.4(FBN1): c.4781G> A (p.Gly1594Asp)single nucleotide variantLikely pathogenic, Pathogenicrs267606798GRCh37Chr 15, 48758022: 48758022
197FBN1NM_000138.4(FBN1): c.4937G> A (p.Cys1646Tyr)single nucleotide variantLikely pathogenicrs397515814GRCh37Chr 15, 48757770: 48757770
198FBN1NM_000138.4(FBN1): c.493C> T (p.Arg165Ter)single nucleotide variantPathogenicrs113905529GRCh37Chr 15, 48888525: 48888525
199FBN1NM_000138.4(FBN1): c.4942G> A (p.Asp1648Asn)single nucleotide variantLikely pathogenicrs397515816GRCh37Chr 15, 48757765: 48757765
200FBN1NM_000138.4(FBN1): c.4955G> A (p.Cys1652Tyr)single nucleotide variantPathogenicrs397515817GRCh37Chr 15, 48756206: 48756206
201FBN1NM_000138.4(FBN1): c.497G> C (p.Cys166Ser)single nucleotide variantLikely pathogenicrs397515818GRCh37Chr 15, 48888521: 48888521
202FBN1NM_000138.4(FBN1): c.5066-1G> Csingle nucleotide variantPathogenicrs397515819GRCh37Chr 15, 48755438: 48755438
203FBN1NM_000138.4(FBN1): c.5251C> T (p.Gln1751Ter)single nucleotide variantLikely pathogenicrs397515820GRCh37Chr 15, 48752488: 48752488
204FBN1NM_000138.4(FBN1): c.529T> C (p.Cys177Arg)single nucleotide variantLikely pathogenicrs363853GRCh37Chr 15, 48888489: 48888489
205FBN1NM_000138.4(FBN1): c.5368C> T (p.Arg1790Ter)single nucleotide variantPathogenicrs113249837GRCh37Chr 15, 48748888: 48748888
206FBN1NM_000138.4(FBN1): c.5437C> T (p.Gln1813Ter)single nucleotide variantLikely pathogenicrs397515821GRCh37Chr 15, 48744867: 48744867
207FBN1NM_000138.4(FBN1): c.5504G> A (p.Cys1835Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs111929350GRCh37Chr 15, 48744800: 48744800
208FBN1NM_000138.4(FBN1): c.5512G> T (p.Gly1838Cys)single nucleotide variantPathogenicrs397515823GRCh37Chr 15, 48744792: 48744792
209FBN1NM_000138.4(FBN1): c.5588G> A (p.Gly1863Glu)single nucleotide variantLikely pathogenicrs113086760GRCh37Chr 15, 48741048: 48741048
210FBN1NM_000138.4(FBN1): c.561delT (p.Phe187Leufs)deletionLikely pathogenicrs397515825GRCh37Chr 15, 48829983: 48829983
211FBN1NM_000138.4(FBN1): c.5721C> G (p.Asn1907Lys)single nucleotide variantLikely pathogenicrs397515826GRCh37Chr 15, 48738970: 48738970
212FBN1NM_000138.4(FBN1): c.5747G> A (p.Cys1916Tyr)single nucleotide variantLikely pathogenicrs397515827GRCh37Chr 15, 48738944: 48738944
213FBN1NM_000138.4(FBN1): c.5863C> T (p.Gln1955Ter)single nucleotide variantPathogenicrs363807GRCh37Chr 15, 48737627: 48737627
214FBN1NM_000138.4(FBN1): c.5788+5G> Asingle nucleotide variantPathogenicrs193922219GRCh37Chr 15, 48738898: 48738898
215FBN1NM_000138.4(FBN1): c.5840G> A (p.Cys1947Tyr)single nucleotide variantLikely pathogenicrs397515828GRCh37Chr 15, 48737650: 48737650
216FBN1NM_000138.4(FBN1): c.5869C> T (p.Gln1957Ter)single nucleotide variantLikely pathogenicrs397515829GRCh37Chr 15, 48737621: 48737621
217FBN1NM_000138.4(FBN1): c.6119G> A (p.Cys2040Tyr)single nucleotide variantLikely pathogenicrs397515830GRCh37Chr 15, 48733962: 48733962
218FBN1NM_000138.4(FBN1): c.6289G> T (p.Glu2097Ter)single nucleotide variantLikely pathogenicrs397515831GRCh37Chr 15, 48729989: 48729989
219FBN1NM_000138.4(FBN1): c.6379+1G> Asingle nucleotide variantLikely pathogenicrs397515833GRCh37Chr 15, 48729518: 48729518
220FBN1NM_000138.4(FBN1): c.643C> T (p.Arg215Ter)single nucleotide variantPathogenicrs111687884GRCh37Chr 15, 48829901: 48829901
221FBN1NM_000138.4(FBN1): c.6515_6516delTTinsG (p.Val2172Glyfs)indelLikely pathogenicrs397515834GRCh37Chr 15, 48726891: 48726892
222FBN1NM_000138.4(FBN1): c.6617-9_6617-8delinsAGindelLikely pathogenicrs397515835GRCh37Chr 15, 48725193: 48725194
223FBN1NM_000138.4(FBN1): c.6630T> G (p.Cys2210Trp)single nucleotide variantLikely pathogenicrs397515836GRCh37Chr 15, 48725172: 48725172
224FBN1NM_000138.4(FBN1): c.6656T> C (p.Phe2219Ser)single nucleotide variantLikely pathogenicrs397515837GRCh37Chr 15, 48725146: 48725146
225FBN1NM_000138.4(FBN1): c.6658C> T (p.Arg2220Ter)single nucleotide variantLikely pathogenic, Pathogenicrs113001196GRCh37Chr 15, 48725144: 48725144
226FBN1NM_000138.4(FBN1): c.6841C> T (p.Gln2281Ter)single nucleotide variantLikely pathogenicrs397515840GRCh37Chr 15, 48722898: 48722898
227FBN1NM_000138.4(FBN1): c.6920G> A (p.Cys2307Tyr)single nucleotide variantLikely pathogenicrs137854457GRCh37Chr 15, 48720620: 48720620
228FBN1NM_000138.4(FBN1): c.7094G> A (p.Cys2365Tyr)single nucleotide variantLikely pathogenicrs397515845GRCh37Chr 15, 48719874: 48719874
229FBN1NM_000138.4(FBN1): c.7167_7168delCT (p.Cys2390Serfs)deletionPathogenicrs397515846GRCh37Chr 15, 48719800: 48719801
230FBN1NM_000138.4(FBN1): c.7168T> C (p.Cys2390Arg)single nucleotide variantLikely pathogenicrs397515847GRCh37Chr 15, 48719800: 48719800
231FBN1NM_000138.4(FBN1): c.7180C> T (p.Arg2394Ter)single nucleotide variantPathogenicrs397515848GRCh37Chr 15, 48719788: 48719788
232FBN1NM_000138.4(FBN1): c.7453+1G> Tsingle nucleotide variantLikely pathogenicrs397515851GRCh37Chr 15, 48717565: 48717565
233FBN1NM_000138.4(FBN1): c.7497_7498delAT (p.Val2501Terfs)deletionLikely pathogenicrs397515852GRCh37Chr 15, 48714221: 48714222
234FBN1NM_000138.4(FBN1): c.7580A> C (p.Glu2527Ala)single nucleotide variantLikely pathogenicrs397515853GRCh37Chr 15, 48713874: 48713874
235FBN1NM_000138.4(FBN1): c.7606G> A (p.Gly2536Arg)single nucleotide variantPathogenicrs397515854GRCh37Chr 15, 48713848: 48713848
236FBN1NM_000138.4(FBN1): c.7852G> A (p.Gly2618Arg)single nucleotide variantPathogenicrs141133182GRCh37Chr 15, 48707932: 48707932
237FBN1NM_000138.4(FBN1): c.7892G> A (p.Cys2631Tyr)single nucleotide variantLikely pathogenicrs111856492GRCh37Chr 15, 48707892: 48707892
238FBN1NM_000138.4(FBN1): c.7955G> A (p.Cys2652Tyr)single nucleotide variantLikely pathogenic, Pathogenicrs397515859GRCh37Chr 15, 48707829: 48707829
239FBN1NM_000138.4(FBN1): c.8267G> A (p.Trp2756Ter)single nucleotide variantPathogenicrs397515861GRCh37Chr 15, 48703536: 48703536
240FBN1NM_000138.4(FBN1): c.8378A> G (p.Tyr2793Cys)single nucleotide variantLikely pathogenicrs397515863GRCh37Chr 15, 48703425: 48703425
241FBN1NM_000138.4(FBN1): c.8483C> G (p.Ser2828Ter)single nucleotide variantLikely pathogenicrs397515864GRCh37Chr 15, 48703320: 48703320
242FBN1NM_000138.4(FBN1): c.8600A> C (p.Gln2867Pro)single nucleotide variantLikely pathogenicrs397515865GRCh37Chr 15, 48703203: 48703203
243FBN1NM_000138.4(FBN1): c.8605_8606delTT (p.Leu2869Alafs)deletionLikely pathogenicrs397515866GRCh37Chr 15, 48703197: 48703198
244FBN1NM_000138.4(FBN1): c.958dupT (p.Tyr320Leufs)duplicationPathogenicrs397515867GRCh37Chr 15, 48818357: 48818357
245TGFBR2NM_001024847.2(TGFBR2): c.1546_1557delGTGTTGAGAGAT (p.Val516_Asp519del)deletionLikely pathogenicrs397516493GRCh37Chr 3, 30729950: 30729961

Expression for genes affiliated with Marfan Syndrome

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Search GEO for disease gene expression data for Marfan Syndrome.

Pathways for genes affiliated with Marfan Syndrome

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Pathways related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 35)
idSuper pathways (with members indented)ScoreTop Affiliating Genes
19.8TGFBR1, TGFBR2
2
Show member pathways
9.4TGFB1, TGFBR1, TGFBR2
39.4TGFB1, TGFBR1, TGFBR2
4
Show member pathways
9.4TGFB1, TGFBR1, TGFBR2
5
Show member pathways
9.4TGFB1, TGFBR1, TGFBR2
6
Show member pathways
9.4TGFB1, TGFBR1, TGFBR2
79.4TGFB1, TGFBR1, TGFBR2
8
Show member pathways
9.4TGFB1, TGFBR1, TGFBR2
99.4TGFB1, TGFBR1, TGFBR2
109.4TGFB1, TGFBR1, TGFBR2
119.4TGFB1, TGFBR1, TGFBR2
12
Show member pathways
9.4TGFB1, TGFBR1, TGFBR2
139.4TGFB1, TGFBR1, TGFBR2
149.4TGFB1, TGFBR1, TGFBR2
159.3COL1A2, DCN, MMP2
16
Angiogenesis (CST)
Show member pathways
9.2COL1A2, DCN, MMP2
17
TGF-beta Signaling Pathway (sino)
Show member pathways
9.0COL1A2, DCN, MMP2
18
TGF-beta signaling pathway (KEGG)
Show member pathways
9.0COL1A2, DCN, MMP2
19
Show member pathways
8.9ELN, FBN1, FBN2, LTBP2, TGFB1
208.9ACTA2, TGFB1, TGFBR1, TGFBR2
218.6EGF, TGFB1, TGFBR1, TGFBR2
22
Show member pathways
8.6EGF, TGFB1, TGFBR1, TGFBR2
238.6EGF, TGFB1, TGFBR1, TGFBR2
24
Show member pathways
8.6EGF, TGFB1, TGFBR1, TGFBR2
25
Show member pathways
8.6EGF, TGFB1, TGFBR1, TGFBR2
268.0EGF, MMP2, TGFB1, TGFBR1, TGFBR2
27
Show member pathways
8.0EGF, MMP2, TGFB1, TGFBR1, TGFBR2
288.0EGF, MMP2, TGFB1, TGFBR1, TGFBR2
29
Show member pathways
7.9CD36, EGF, TGFB1, TGFBR1, TGFBR2
30
Show member pathways
7.8ACTA2, EGF, LTBP2, TGFB1, TGFBR1, TGFBR2
31
Show member pathways
7.7COL1A2, DCN, ELN, FBN1, FBN2, LTBP2
32
Show member pathways
7.6CD36, DCN, EGF, TGFB1, TGFBR1, TGFBR2
33
Show member pathways
6.9ACTA2, COL1A2, EGF, ELN, FBN1, FBN2
34
Show member pathways
6.7ACTA2, COL1A2, EGF, ELN, FBN1, FBN2
35
Show member pathways
5.8ACTA2, CD36, COL1A2, EGF, ELN, FBN1

GO Terms for genes affiliated with Marfan Syndrome

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Cellular components related to Marfan Syndrome according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1microfibrilGO:000152710.6FBN1, FBN2
2transforming growth factor beta receptor homodimeric complexGO:007002210.5TGFBR1, TGFBR2
3extracellular matrixGO:00310128.4COL1A2, DCN, FBN1, FBN2, LTBP2, MMP2
4proteinaceous extracellular matrixGO:00055788.2DCN, ELN, FBN1, FBN2, LTBP2, MMP2
5extracellular regionGO:00055766.9COL1A2, DCN, EGF, ELN, FBN1, FBN2
6extracellular spaceGO:00056156.4ACTA2, CD36, COL1A2, DCN, EGF, FBN1

Biological processes related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 24)
idNameGO IDScoreTop Affiliating Genes
1sequestering of TGFbeta in extracellular matrixGO:003558310.7FBN1, FBN2
2embryonic eye morphogenesisGO:004804810.6FBN1, FBN2
3common-partner SMAD protein phosphorylationGO:000718210.4TGFB1, TGFBR2
4bone trabecula formationGO:006034610.3FBN2, MMP2
5positive regulation of SMAD protein import into nucleusGO:006039110.3TGFB1, TGFBR1
6myeloid dendritic cell differentiationGO:004301110.1TGFB1, TGFBR2
7pathway-restricted SMAD protein phosphorylationGO:006038910.0TGFB1, TGFBR1, TGFBR2
8cellular response to transforming growth factor beta stimulusGO:00715609.9FBN1, TGFB1, TGFBR1
9response to cholesterolGO:00707239.9TGFB1, TGFBR1, TGFBR2
10skeletal system developmentGO:00015019.9COL1A2, FBN1, TGFBR1
11organ morphogenesisGO:00098879.9DCN, ELN, TGFBR2
12kidney developmentGO:00018229.9DCN, FBN1, TGFBR1
13negative regulation of transforming growth factor beta receptor signaling pathwayGO:00305129.9TGFB1, TGFBR1, TGFBR2
14positive regulation of peptidyl-threonine phosphorylationGO:00108009.7EGF, TGFB1
15germ cell migrationGO:00083549.7TGFB1, TGFBR1
16regulation of cellular response to growth factor stimulusGO:00902879.7FBN1, FBN2
17agingGO:00075689.7DCN, TGFB1, TGFBR2
18wound healingGO:00420609.3DCN, TGFB1, TGFBR1, TGFBR2
19transforming growth factor beta receptor signaling pathwayGO:00071799.1COL1A2, LTBP2, TGFB1, TGFBR1, TGFBR2
20platelet degranulationGO:00025769.1CD36, EGF, TGFB1
21positive regulation of peptidyl-tyrosine phosphorylationGO:00507319.0CD36, EGF, TGFB1
22extracellular matrix disassemblyGO:00226178.7COL1A2, DCN, ELN, FBN1, FBN2, MMP2
23platelet activationGO:00301688.3CD36, COL1A2, EGF, TGFB1
24extracellular matrix organizationGO:00301987.9COL1A2, DCN, ELN, FBN1, FBN2, MMP2

Molecular functions related to Marfan Syndrome according to GeneCards Suite gene sharing:

(show all 13)
idNameGO IDScoreTop Affiliating Genes
1transforming growth factor beta-activated receptor activityGO:000502410.6TGFBR1, TGFBR2
2transmembrane receptor protein serine/threonine kinase activityGO:000467510.5TGFBR1, TGFBR2
3receptor signaling protein serine/threonine kinase activityGO:000470210.5TGFBR1, TGFBR2
4type I transforming growth factor beta receptor bindingGO:003471310.5TGFB1, TGFBR2
5type III transforming growth factor beta receptor bindingGO:003471410.4TGFB1, TGFBR2
6glycosaminoglycan bindingGO:000553910.4DCN, TGFBR2
7type II transforming growth factor beta receptor bindingGO:000511410.4TGFB1, TGFBR1
8extracellular matrix bindingGO:005084010.3DCN, ELN
9extracellular matrix constituent conferring elasticityGO:003002310.2FBN1, FBN2
10transforming growth factor beta bindingGO:00504319.9CD36, TGFBR1, TGFBR2
11SMAD bindingGO:00463329.8COL1A2, TGFBR1, TGFBR2
12extracellular matrix structural constituentGO:00052019.6COL1A2, ELN, FBN1, FBN2
13protein bindingGO:00055154.7ACTA2, CBS, CD36, COL1A2, DCN, EGF

Sources for Marfan Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet